Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 24, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes
ConclusionThe peripheral blood leukocyte PDHC activity assay may provide a practical enzymatic diagnostic method forPDHC-related mitochondrial diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2021 Category: Genetics & Stem Cells Authors: YanYan Ma, YaoGang Zhang, Tao Zhang, Zhu Man, XiaoMing Su, ShuJing Hao, TianZe Wang Tags: CLINICAL REPORT Source Type: research

Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan ‐cancer analysis
Somatic IDH mutation was found in multiple solid tumors and IDH would be a driver gene in biliary tract cancer. AbstractBackgroundIsocitrate dehydrogenase (IDH) is an enzyme family involved in cell aerobic metabolism of tricarboxylic acid cycle. However, the landscape ofIDH mutations in pan-cancer has not been fully characterized.MethodsTissue or blood samples were subjected to next-generation sequencing (NGS) for detection theIDH mutation.ResultsA total of 28.868 patients from more than 20 solid tumor species were analyzed. A total of 374 cases (1.30%) withIDH mutations were identified. Among all theIDH mutations cases, 8...
Source: Molecular Genetics & Genomic Medicine - June 19, 2021 Category: Genetics & Stem Cells Authors: Dong Shen, Junling Zhang, Kai Yuan, Jing Zhao, Zhengyi Zhao, Longgang Cui, Yuzi Zhang, Guoqiang Wang, Shangli Cai, Yuezong Bai, Wei Li, Xiang Huang Tags: GENETICS AND GENOMIC MEDICINE RESEARCH ARTICLE Source Type: research

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs
ConclusionWe identified or replicated at least four recurrent variants among cardiomyopathy patients, which could be founder disease mutations in the Arabic population, including a frameshift variant (c.1371_1381dupTATCCAGTTAT) of unknown significance in theFKTN gene which seems to cause DCM in homozygosity, and HCM in heterozygosity.In vivo and/orin vitro functional validation need to be pursued in order to assess the pathogenicity of the identified variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2021 Category: Genetics & Stem Cells Authors: Kholoud N. Al ‐Shafai, Mohammed Al‐Hashemi, Chidambaram Manickam, Rania Musa, Senthil Selvaraj, Najeeb Syed, Fazulur Vempalli, Muneera Ali, Magdi Yacoub, Xavier Estivill Tags: ORIGINAL ARTICLE Source Type: research

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus
ConclusionFOXJ1 pathogenic variants cause PCD in ade novo, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto-sino-pulmonary disease should be aware of this PCD association and test forFOXJ1 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 16, 2021 Category: Genetics & Stem Cells Authors: Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van ‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala Tags: ORIGINAL ARTICLE Source Type: research

CD40LG mutations in Vietnamese patients with X ‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication
ConclusionThis is the first report of XHIGM syndrome in Vietnam indicates that an effective diagnostic strategy, such as sequencing analysis, contributes to reliable diagnosis and subsequent therapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 11, 2021 Category: Genetics & Stem Cells Authors: Anh Nguyen Lien Phan, Thuy Thi Thanh Pham, Xinh Thi Phan, Nghia Huynh, Tuan Minh Nguyen, Cuc Tran Thu Cao, Duong Thuy Nguyen, Khanh Thi Xuan Luong, Tam Thi Minh Nguyen, Anh Ngoc Kim Tran, Linh Thi Truc Pham, Vy Vuong Thao Nguyen, Sigrid Swagem Tags: CLINICAL REPORT Source Type: research

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
ConclusionThe role of mutation in theGNPAT suggests a likely association with the clinical phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti Tags: CLINICAL REPORT Source Type: research

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome
ConclusionGiven the clinical phenotype and identified variants we suggest that this is only the fourth patient reported to date with CP due to mutations inSTN1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker Tags: CLINICAL REPORT Source Type: research

Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients
ConclusionsGenetic variants ofNEIL1 are associated with RP risk through regulation ofNEIL1 expression and serve as independent biomarkers for prediction of RP in patients treated with thoracic radiotherapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 9, 2021 Category: Genetics & Stem Cells Authors: Yuming Zheng, Leizhen Zheng, Jiahua Yu, Mawei Jiang, Songfang Zhang, Xuwei Cai, Meiling Zhu Tags: ORIGINAL ARTICLE Source Type: research

A novel pathogenic splice site variation in STK11 gene results in Peutz –Jeghers syndrome
ConclusionWe identified a novel heterozygous mutation (c.921-2 A>C) in theSTK11 in a Chinese PJS family. Haploinsufficiency of STK11 might contribute to the pathogenesis of the disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2021 Category: Genetics & Stem Cells Authors: Na Zhao, Huizhi Wu, Ping Li, Yuxian Wang, Li Dong, Han Xiao, Changxin Wu Tags: ORIGINAL ARTICLE Source Type: research

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1
ConclusionThis study illustrates the underlying molecular pathology among Egyptian NF1 patients for the first time. It also reports on 8 novel mutation expanding pathogenic mutational spectra in theNF1 gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2021 Category: Genetics & Stem Cells Authors: Nahla Abdel ‐Aziz, Ghada El‐Kamah, Rabab Khairat, Hanan Mohamed, Yehia Gad, Akmal M. El‐Ghor, Khalda S. Amr Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 2, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
ConclusionThe study confirms the pathogenicity of a previously undescribed upstream intronic variant, highlighting the power of genome sequencing to identify noncoding variants. In addition, this report provides evidence for the utility of a combination approach of genome sequencing plus functional studies to provide diagnosis in a child for whom a lengthy diagnostic odyssey, including exome sequencing, was previously unrevealing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 2, 2021 Category: Genetics & Stem Cells Authors: Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury Tags: ORIGINAL ARTICLE Source Type: research

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center
ConclusionImplementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 1, 2021 Category: Genetics & Stem Cells Authors: Hui Xi, Wanqin Xie, Jing Chen, Wanglan Tang, Xiuli Deng, Hua Li, Ying Peng, Dan Wang, Shuting Yang, Yanan Zhang, Ranhui Duan, Junqun Fang, Hua Wang Tags: ORIGINAL ARTICLE Source Type: research

CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature
ConclusionThis case report adds to the limited body of literature that exists on this terminal deletion at 3p26.3 that involves CHL1  gene, and supports prior proposals of an emergingCHL1 microdeletion syndrome that results in language and cognitive delays. Further studies are needed to understand the degree of phenotypic heterogeneity associated with CHL1 gene deletion and whether the size of the deletion or presence of additional copy number variants (CNVs) which were seen in ot her case reports help predict the expected phenotype for a patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 31, 2021 Category: Genetics & Stem Cells Authors: Melissa Tsuboyama, Mohammed Anwar Iqbal Tags: CLINICAL REPORT Source Type: research

Identification of novel mutation in RANKL by whole ‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis
ConclusionWe report a novel mutation in an ultra-rare form of osteopetrosis. Our siblings manifested with a milder phenotype in comparison with nine cases previously published. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 31, 2021 Category: Genetics & Stem Cells Authors: Pongtawat Lertwilaiwittaya, Bhoom Suktitipat, Phongphak Khongthon, Warut Pongsapich, Chanin Limwongse, Manop Pithukpakorn Tags: ORIGINAL ARTICLE Source Type: research

Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population
ConclusionOur findings suggest that the rs3742106 (ABCC4) and rs28399433 (CYP2A6) polymorphisms may modulate susceptibility to CML in a population of the Brazilian Amazon region. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 29, 2021 Category: Genetics & Stem Cells Authors: Natasha Monte, Karla B. C. C. Pantoja, Juliana C. G. Rodrigues, Darlen C. Carvalho, Tereza C. B. Azevedo, Esdras E. B. Pereira, Paulo P. Assump ção, Sidney E. B. Santos, Marianne R. Fernandes, Ney P. C. Santos Tags: ORIGINAL ARTICLE Source Type: research

Genetic polymorphism of vitamin D receptors and plasminogen activator inhibitor ‐1 and osteonecrosis risk in childhood acute lymphoblastic leukemia
ConclusionOsteonecrosis can develop early during the therapy of ALL. Older age and insufficient level of 25(OH)D were considered important risk factor for the development of osteonecrosis. PAT-1 and VDR gene polymorphism may be a genetic risk factor in its pathogenesis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 27, 2021 Category: Genetics & Stem Cells Authors: Laila M. Sherief, Mohamed Beshir, Nermin Raafat, Elhamy R. Abdelkhalek, Wesam A. Mokhtar, Khaled M. Elgerby, Basma K. Soliman, Hosam E. Salah, Ghada A. Mokhtar, Naglaa M. Kamal, Heba ELsayed, Marwa Zakaria Tags: ORIGINAL ARTICLE Source Type: research

A De Novo case of autosomal dominant mitochondrial membrane protein ‐associated neurodegeneration
ConclusionOur clinical report provides further clinical evidence that MPAN can be inherited in an autosomal dominant or recessive fashion. The patient's age of onset and clinical symptoms are very similar to the previous patient published with this specific variant as well as others with heterozygous pathogenic variants inC19orf12 in Gregory et al. 2019. Our case report highlights the importance of considering both autosomal dominant and autosomal recessive version of MPAN with all patients demonstrating clinical features suggestive of MPAN. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 27, 2021 Category: Genetics & Stem Cells Authors: Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey Tags: CLINICAL REPORT Source Type: research

In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs
ConclusionThis information can be verified by further in vitro and in vivo experimentations and could be exploited for potential therapeutic targets. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Faisal A. Alzahrani, Yousef MohammedRabaa Hawsawi, Hisham N. Altayeb, Naif O. Alsiwiehri, Othman R. Alzahrani, Hanan E. Alatwi, Osama M. Al ‐Amer, Suliman Alomar, Lamjed Mansour Tags: ORIGINAL ARTICLE Source Type: research

The VANGL1 P384R variant cause both neural tube defect and Klippel ‐Feil syndrome
ConclusionOverall, this study presents fetal NTD caused by the sameVANGL1 variant found in a Klippel-Feil syndrome patient with complete clinical information of prenatal ultrasound, postnatal CT, and genetic results as early as 25 GW. Our study not only expands theVANGL1 mutational spectrum but also sheds light on the important role of theVANGL1 P384R variant in human development. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2021 Category: Genetics & Stem Cells Authors: Chen Cheng, Sheng Zhao, Xia Zhu, Fan Yang, Weiyun Wang, Qian Feng, Ya Liu, Hui Huang, Xinlin Chen Tags: CLINICAL REPORT Source Type: research

The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis
This study aimed to evaluate the association of  CYP19A1 rs10046 and rs700519 polymorphisms with the risk, clinicopathological factors and prognosis of breast cancer. Our findings help to enrich the literature about the genetic basis of breast cancer.rs10046 and  rs700519 may have a diagnostic and prognostic role, respectively.​ AbstractBackgroundDifferent genetic variants in hormone-regulating pathways have been identified to influence the risk of breast cancer. This study aimed to evaluate the association of  CYP19A1 rs10046 and rs700519 polymorphisms with the risk, cli...
Source: Molecular Genetics & Genomic Medicine - May 20, 2021 Category: Genetics & Stem Cells Authors: Ahmad Mohammed Alwan, Fahimeh Afzaljavan, Jalil Tavakol Afshari, Fatemeh Homaei Shandiz, Matineh Barati Bagherabad, Elham Vahednia, Nahid Kheradmand, Alireza Pasdar Tags: ORIGINAL ARTICLE Source Type: research

Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China
ConclusionsOur survey shows that Hong Kong and Shenzhen's PCPs are not yet fully utilizing potential benefits of genomic medicine in their clinical practice, which could be addressed with a combination of easily accessible educational resources, clear referral pathways and guidelines on genetic diseases, and cross-specialty collaboration between healthcare systems and professional bodies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: Man Wai Cecilia Yu, Jasmine Lee Fong Fung, Amy Pui Pui Ng, Zhuo Li, Wang Lan, Claudia Ching Yan Chung, Yang Li, Ying Liu, Brian H. Y. Chung, William Chi Wai Wong Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

LAMB2 novel variant c.2885 ‐9 C > A affects RNA splicing in a minigene assay
ConclusionWe demonstrated the impact of a novelLAMB2 intronic variant on RNA splicing using the minigene assay firstly. Our results extend the mutational spectrum ofLAMB2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2021 Category: Genetics & Stem Cells Authors: Xiaoyuan Wang, Huijie Xiao, Baige Su, Yali Ren, Jie Ding, Fang Wang Tags: ORIGINAL ARTICLE Source Type: research

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders
ConclusionIn conclusion, we show that comprehensive clinical and genetic examination of microduplications on the X-chromosome can be helpful in undiagnosed cases of neurodevelopmental disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2021 Category: Genetics & Stem Cells Authors: Hannaleena Kokkonen, Auli Siren, Tuomo M äättä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen Tags: CLINICAL REPORT Source Type: research

Epimutation of MMACHC compound to a genetic mutation in cblC cases
ConclusionWe report compound heterozygotes inMMACHC for a genetic mutation and an epimutation in cblC cases. To our best knowledge, this is the first report of two cblC cases from China caused by compound heterozygous mutations with a coding mutation in one allele and an epimutation in the other at theMMACHC locus. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2021 Category: Genetics & Stem Cells Authors: Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei Tags: ORIGINAL ARTICLE Source Type: research

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
ConclusionOur study expanded the mutation spectrum ofKLHL40 and the condition could have been underdiagnosed before. We identified a recurrent missense variant c.1516A>C and provided evidence further supporting the founder effect of this variant in Southern Chinese population. Given the severity of the condition and the relative high incidence, this not-so-rare disorder should be included in expanded carrier screening panel for Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2021 Category: Genetics & Stem Cells Authors: Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen Tags: CLINICAL REPORT Source Type: research

Blood group genotyping in alloimmunized multi ‐transfused thalassemia patients from Iran
ConclusionMolecular genotyping is more reliable compared with the serological method, especially in multi-transfused patients. Therefore, the addition of blood group genotyping to serological assays can lead to an antigen-matched transfusion in these patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2021 Category: Genetics & Stem Cells Authors: Reyhaneh Sarihi, Arezoo Oodi, Raziyeh Dadkhah Tehrani, Seyedeh Farzaneh Jalali, Fahimeh Mardani, Azita Azarkeivan, Samira Gudarzi, Naser Amirizadeh Tags: ORIGINAL ARTICLE Source Type: research

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature
ConclusionsOur study supports the importance of determining the genomic landscape of FA in diverse populations, in order to improve understanding of FA etiology and assist in the counseling of families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2021 Category: Genetics & Stem Cells Authors: Ashley S. Thompson, Nusrat Saba, Lisa J. McReynolds, Saeeda Munir, Parvez Ahmed, Sumaira Sajjad, Kristine Jones, Meredith Yeager, Frank X. Donovan, Settara C. Chandrasekharappa, Blanche P. Alter, Sharon A. Savage, Sadia Rehman Tags: ORIGINAL ARTICLE Source Type: research

Hyperhaemolysis in a pregnant woman with a homozygous β0‐thalassemia mutation and two genetic modifiers
ConclusionThis report is in accordance with previous findings that genetic  modifiers can ameliorate the clinical severity of β-thalassemia, even without obvious clinical symptoms in a prolonged steady state. However, the steady state can be disrupted during pregnancy. In addition, raising awareness of hyperhaemolysis among clinicians treating patients with thalass emia is necessary. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2021 Category: Genetics & Stem Cells Authors: Lou Jiwu, Sun Manna, Meixiang Lai, Zhao Ying, Liu Yanhui Tags: CLINICAL REPORT Source Type: research

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing
ConclusionHere we report our observations on the inheritance pattern ofDMD gene mutations in matrilineage samples across four generations. Additionally, our data suggest that theDMD gene panel designed by us can be routinely used as a single genetic test to identify allDMD gene variants in DMD patients and the carrier mothers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2021 Category: Genetics & Stem Cells Authors: Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley, Nithyanandan T., Vedam L. Ramprasad, Ravi Gupta, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke Tags: ORIGINAL ARTICLE Source Type: research

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
ConclusionWe, therefore, consider whether c.454G>A (p.E152K) is, indeed, a pathogenic variant, and what implications it has for family members who carry the same variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2021 Category: Genetics & Stem Cells Authors: Beattie R. H. Sturrock, Ellen F. Macnamara, Peter McGuire, Shannon Kruk, Ivan Yang, Jennifer Murphy, Undiagnosed Diseases Network, Cyndi J. Tifft, Eliza Gordon ‐Lipkin, Maria T Acosta, Margaret Adam, David R Adams, Pankaj B Agrawal, Mercede Tags: CLINICAL REPORT Source Type: research

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
ConclusionOGM affords an effective technology for the detection of SVs, especially those that are mosaic, since these remain difficult to detect with current NGS technologies and with conventional chromosomal microarrays. Further research in undiagnosed populations with OGM is warranted. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi, Maria T Acosta, Margaret A Tags: ORIGINAL ARTICLE Source Type: research

Molecular basis of various forms of maple syrup urine disease in Chilean patients
ConclusionIf MSUD is diagnosed earlier, with a newborn screening approach, it might be possible to establish genotype-phenotype relationships more efficiently. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2021 Category: Genetics & Stem Cells Authors: Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa D öederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Tags: ORIGINAL ARTICLE Source Type: research

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination
In this study we report our experience with gene mutations in children suspected to have Stickler syndrome type collagenopathy based on ocular examination.To the best of our knowledge this is the first such study based on ascertainment by an ophthalmologist. AbstractPurposeStickler syndrome is a collagenopathy that is typicallyCOL2A1-related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing impairment, midfacial hypoplasia, and arthropathy. However, some chi...
Source: Molecular Genetics & Genomic Medicine - May 5, 2021 Category: Genetics & Stem Cells Authors: Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya Tags: ORIGINAL ARTICLE Source Type: research

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice
ConclusionsIn summary, positive NIPT results of chromosomal deletions/duplications were not uncommon in clinical practice, whereas the PPV for the testing was low. Hence, potential risks and high percentage of false positives for these abnormal NIPT results might be informed to pregnant women before the choice made of invasive testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2021 Category: Genetics & Stem Cells Authors: Lingshan Gou, Feng Suo, Yi Wang, Na Wang, Qin Wu, Shunan Hu, Peng Wang, Lize Gu, Man Zhang, Chuanxia Wang, Yan Zhang, Xin Yin, Peng Zhang, Jian Xu, Xingqi Wang, Maosheng Gu Tags: ORIGINAL ARTICLE Source Type: research

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort
The contribution and genetic spectrum of de novo mutations (DNMs) was confirmed in infantile spasms (ISs). Somatic mutation accounted for 22.7% of DNMs in IS patients. Treatment with levetiracetam improved the prognosis of STXBP1-related ISs. AbstractObjectiveWe determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) forSTXBP1-related ISs was explored also.MethodsTargeted sequencing of 153 epilepsy-related candidate genes was applied to 289 Chinese patients with undiagnosed ISs. Trio-based amplicon deep sequenc...
Source: Molecular Genetics & Genomic Medicine - May 5, 2021 Category: Genetics & Stem Cells Authors: Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yangyang Wang, Mengna Zhang, Yu Zhang, Jonathan Picker, Xiaodai Cui, Liping Zou, Xiaoli Chen Tags: ORIGINAL ARTICLE Source Type: research

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
ConclusionOur study analyzed a Chinese family with PLS and identified a novel missense variant in theCTSC gene. Besides, this study retrospectively summarized 113 variants ofCTSC in the world and highlighted the features of 27CTSC variants in Chinese PLS patients. In addition, this study paid much particular attention to the relationship betweenCTSC variants and different phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2021 Category: Genetics & Stem Cells Authors: Hui Yu, Xun He, Xiangqin Liu, Houbin Zhang, Zhu Shen, Yi Shi, Xiaoqi Liu Tags: REVIEW ARTICLE Source Type: research

Association between subjective well ‐being and perception of medical care system among patients with Marfan syndrome: A cross‐sectional study
ConclusionOur results have suggested that it is necessary to maintain and enhance the medical treatment system with the patients for improving the subjective well-being of MFS patients. In addition, the result indicated the need for intervention to the patients themselves and also their family so that it allows patients to receive physical and emotional support from people close to them. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2021 Category: Genetics & Stem Cells Authors: Tomoko Shimizu, Yasuko Shimizu Tags: ORIGINAL ARTICLE Source Type: research

A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
ConclusionThis variant is novel and has not been found in any databases. We propose that this splice variant explains the spherocytosis phenotype observed in this large family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey, Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert Chapelle, Huiling He Tags: CLINICAL REPORT Source Type: research

Germline and somatic mutations in the pathology of pineal cyst: A whole ‐exome sequencing study of 93 individuals
Whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples was performed to study the molecular mechanism of pineal cysts. A list of overrepresented germline genetic variants and somatic mutations were identified for future validation.​ AbstractBackgroundPineal cyst is a benign lesion commonly occurring in people of any age. Until now, the underlying molecular alterations have not been explored.MethodsWe performed whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples to illustrate its genetic architecture and somatic mutations. The dominant and recessive inheritance modes we...
Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Yuanqing Yan, Rebecca Martinez, Maria N. Rasheed, Joshua Cahal, Zhen Xu, Yanning Rui, Krista J. Qualmann, John P. Hagan, Dong H. Kim Tags: ORIGINAL ARTICLE Source Type: research

A novel EDAR missense mutation identified by whole ‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family
ConclusionA novelEDAR missense variant c.338G>A (p.(Cys113Tyr)) was identified in a family with NSTA, extending the mutation spectrum of theEDAR gene. Genotype –phenotype correlation analyses ofEDAR andEDA mutations could help to improve disease status prediction in NSTA families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Hongyu Zhang, Xuanting Kong, Jiabao Ren, Shuo Yuan, Chunyan Liu, Yan Hou, Ye Liu, Lingqiang Meng, Guozhong Zhang, Qingqing Du, Wenjing Shen Tags: ORIGINAL ARTICLE Source Type: research

Next ‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism
ConclusionsMosaic variants could be effectively evaluated via ultra ‐deep sequencing, and could be prevented the transmission by PGT. Our work suggested that an NGS‐based PGT approach, involving pathogenic variants detection combined with haplotype analysis, is crucial for accurate PGT‐M with mosaicism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Xiao Hu, Wen ‐Bin He, Shuo‐Ping Zhang, Ke‐Li Luo, Fei Gong, Jing Dai, Yi Zhang, Zhen‐Xing Wan, Wen Li, Shi‐Min Yuan, Yue‐Qiu Tan, Guang‐Xiu Lu, Ge Lin, Juan Du Tags: ORIGINAL ARTICLE Source Type: research

More severe phenotype of early ‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
ConclusionSevere forms of EOOP may occur with carriage of 2 pathogenic variants in genes encoding regulators of the Wnt signaling pathway. Two ‐variant carriers of Wnt pathway genes had severe EOOP. Moreover,DKK1 andWNT3A genes should be included in next ‐generation sequence analyses of bone fragility. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2021 Category: Genetics & Stem Cells Authors: Caroline Caetano da Silva, Manon Ricquebourg, Philippe Orcel, St éphanie Fabre, Thomas Funck‐Brentano, Martine Cohen‐Solal, Corinne Collet Tags: ORIGINAL ARTICLE Source Type: research

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Giulia Romanisio, Cristina Chelleri, Marcello Scala, Gianluca Piccolo, Barbara Carlini, Laura Gatti, Valeria Capra, Federico Zara, Anna Bersano, Marco Pavanello, Patrizia De Marco, Maria Cristina Diana Tags: LETTER TO THE EDITOR Source Type: research

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
ConclusionThese results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype ‐phenotype correlations in OI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara Tags: ORIGINAL ARTICLE Source Type: research

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
ConclusionTo the best of our knowledge, this is the first article to report a patient with a p.G12D variant that had special but mild manifestation. Moreover, this report and literature review casts new light on the clinical features of p.G12D variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2021 Category: Genetics & Stem Cells Authors: Wen Qian, Meijie Zhang, Hequn Huang, Yihe Chen, Gajin Park, Ni Zeng, Yueyue Li, Qian Lu, Dan Luo Tags: CLINICAL REPORT Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 27, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Maternal adiposity is associated with inflammatory gene expression in leukocytes at term human pregnancy: A pilot study
ConclusionOur findings suggest that during term pregnancy, increased maternal adiposity may enhance the priming of peripheral leukocytes, while in choriodecidua it may alter leukocyte recruitment and proinflammatory activity. Maternal adiposity must be considered an important variable in further studies that analyze inflammation ‐related gene expression in pregnant women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 27, 2021 Category: Genetics & Stem Cells Authors: Karla MacDonald ‐Ramos, Rodrigo Vega‐Sánchez Tags: ORIGINAL ARTICLE Source Type: research