Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis
ConclusionsOur results expand the spectrum of variation of genes related to osteopetrosis and deepen the understanding of the relationship between the genotype and clinical characteristics of osteopetrosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 21, 2021 Category: Genetics & Stem Cells Authors: Huanhuan Liang, Niu Li, Ru ‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang Tags: ORIGINAL ARTICLE Source Type: research

Update on a previously reported missense mutation: The c.1160 C > A mutation in the UGT1A1 gene result in Crigler –Najjar syndrome type 1
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 21, 2021 Category: Genetics & Stem Cells Authors: Mohammad Javad Ghorbani, Seyed Mohsen Dehghani Tags: LETTER TO THE EDITOR Source Type: research

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family
ConclusionsThis study expanded theKCNV2 mutation spectrum. It can also be deduced that CDSRR has a broad heterogeneity. It is further confirmed that the inability expression of Kv8.2 proteins and the failure of Kv8.2 proteins to interact with Kv2.1 may have accounted for the etiology of CDSRR based on previous studies and this study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 18, 2021 Category: Genetics & Stem Cells Authors: Man Liu, Yingchuan Zhu, Lian Huang, Wenhao Jiang, Na Wu, Yue Song, Yilu Lu, Yongxin Ma Tags: ORIGINAL ARTICLE Source Type: research

Far and wide: Exploring provider utilization of remote service provision for genome ‐wide sequencing in Canada
ConclusionThe use of GWS varied across Canada, professional designation, and discipline. Funding remains a barrier to GWS access. Remote technologies increase patient access with reduced wait times. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 17, 2021 Category: Genetics & Stem Cells Authors: Emily A. Enns, Tasha Wainstein, Nick Dragojlovic, Nicola Kopac, GenCOUNSEL Study, Larry D. Lynd, Alison M. Elliott Tags: ORIGINAL ARTICLE Source Type: research

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d ‐transposition of the great arteries
ConclusionWhile there is an ongoing debate about the clinical superiority of WGS versus WES for patients with a suspected genetic condition, this scenario highlights a weakness of WES as well as the added cost and delay in diagnosis timing with having WGS follow WES or even ending further genetic testing with a negative WES. While knowledge gaps still exist for many intronic variants, transcriptome analysis provides a way of validating the resulting dysfunction caused by these variants and thus allowing for appropriate pathogenicity classification. This is the second published case report of a patient with pathogenic intro...
Source: Molecular Genetics & Genomic Medicine - September 16, 2021 Category: Genetics & Stem Cells Authors: Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert Hopkin, Cameron Thomas, David Cooper, Kristen Suhrie Tags: CLINICAL REPORT Source Type: research

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients withKAT6B-related disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2021 Category: Genetics & Stem Cells Authors: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Eliz Tags: ORIGINAL ARTICLE Source Type: research

Deep analysis of the LRTOMTc.242G > A variant in non ‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies
In conclusion, theLRTOMT c.242G>A homozygous variant could be used as a useful deafness biomarker for North African ARNSHL patients meanwhile the heterozygous variant could be utilized in genealogical studies for tracing those of the Berber ethnic group. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2021 Category: Genetics & Stem Cells Authors: Mohamed Ali Mosrati, Karima Fadhlaoui ‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi Tags: ORIGINAL ARTICLE Source Type: research

Beckwith –Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
ConclusionWe have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2021 Category: Genetics & Stem Cells Authors: Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H ’mida Ben‐Brahim, Lamia BenJemaa Tags: ORIGINAL ARTICLE Source Type: research

Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients
ConclusionsThis high prevalence of slow metabolizers for isoniazid in the Peruvian population should be further studied and considered to help individualize drug regimens, especially in countries with a great genetic diversity like Peru. These data will help the Peruvian National Tuberculosis Control Program develop new strategies for therapies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 12, 2021 Category: Genetics & Stem Cells Authors: Kelly S. Levano, Luis Jaramillo ‐Valverde, David D. Tarazona, Cesar Sanchez, Silvia Capristano, Tania Vásquez‐Loarte, Lely Solari, Alberto Mendoza‐Ticona, Alonso Soto, Christian Rojas, Roberto Zegarra‐Chapoñan, Heinner Guio Tags: ORIGINAL ARTICLE Source Type: research

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants
ConclusionsClinicoradiologic characteristics of heterozygousHTRA1-related CSVD may overlap with sporadic CSVD. HeterozygousHTRA1 variants can contribute to dominant or recessive disease mechanisms. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 12, 2021 Category: Genetics & Stem Cells Authors: Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova Tags: CLINICAL REPORT Source Type: research

Two novel presentations of KCNMA1 ‐related pathology––Expanding the clinical phenotype of a rare channelopathy
ConclusionThe current report presents the first antenatal presentation of a pathogenicKCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 10, 2021 Category: Genetics & Stem Cells Authors: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje Rij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys Tags: CLINICAL REPORT Source Type: research

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China
ConclusionOur study concludes that genetic variation is an important consideration in the risk stratification of individualized prediction and disease diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 9, 2021 Category: Genetics & Stem Cells Authors: Jinjie Li, Liu Yang, Yanjun Diao, Lei Zhou, Yijuan Xin, Liqing Jiang, Rui Li, Juan Wang, Weixun Duan, Jiayun Liu Tags: ORIGINAL ARTICLE Source Type: research

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
ConclusionIn this paper, we state that detection and interpretation of MEIs in clinical practice in targeted NGS data can be performed relatively easy despite the fact that MEIs very rarely occur in coding parts of the human genome. Large scale reanalysis of MEIs in existing cohorts may solve otherwise unsolvable cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 8, 2021 Category: Genetics & Stem Cells Authors: German Demidov, Joohyun Park, Sorin Armeanu ‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski Tags: ORIGINAL ARTICLE Source Type: research

Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation
ConclusionA commonRASA1 variant may be associated with ICH and large lesion count in familial CCM. EPHB4 variants were not associated with any of the three CCM severity phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 7, 2021 Category: Genetics & Stem Cells Authors: Foram Choksi, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Christine K. Fox, Atif Zafar, Marc C. Mabray, Joseph Zabramski, Amy Akers, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim Tags: ORIGINAL ARTICLE Source Type: research

A two ‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies
ConclusionThe use of CMA in high-risk pregnancies is justified and provides relevant clinical information in 3.6% of the cases. NGS analysis in fetuses with multiple anomalies shows promising results, but more investigations are needed for a better understanding of practical applications of this molecular diagnosis method in prenatal settings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 6, 2021 Category: Genetics & Stem Cells Authors: Konstantin Ridn õi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva‐Liina Ustav, Pille Tammur, Triin Mölter‐Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation of AMHR2 in two brothers with persistent M üllerian duct syndrome and their intracytoplasmic sperm injection outcome
ConclusionThe spermatozoa could obtain from PMDS patients due to azoospermia. For patients with bilateral cryptorchidism, PMDS should be included in the differential diagnosis and that genetic counseling needs to be considered when they seek reproductive help. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 4, 2021 Category: Genetics & Stem Cells Authors: Jianzheng Fang, Gao Gao, Jinyong Liu, Lingbo Cai, Yugui Cui, Xiaoyu Yang Tags: ORIGINAL ARTICLE Source Type: research

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid ‐capture next‐generation sequencing
ConclusionThe fetuses assessed in this study carried low-level and somatic mosaic variants, and CR tissue from one fetus exhibited a second-hit variant. Heterozygous gonadal variants can exist in patients with low-level mosaicism. Combining NGS with ddPCR improves the accuracy of prenatal TSC diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 4, 2021 Category: Genetics & Stem Cells Authors: Siyu Wang, Hairui Sun, Jianbin Wang, Xiaoyan Gu, Lu Han, Yuduo Wu, He Yan, Ling Han, Hongjia Zhang, Yihua He Tags: ORIGINAL ARTICLE Source Type: research

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea
ConclusionWe report here for the first time compound heterozygous truncating mutations ofNOBOX in outbred patients, generalizing biallelicNOBOX null mutations as a cause of severe POI with primary amenorrhea. In addition, our findings also suggest thatNOBOX haploinsufficiency is tolerated. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 4, 2021 Category: Genetics & Stem Cells Authors: Asma Sassi, Julie D ésir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere Tags: ORIGINAL ARTICLE Source Type: research

LncRNA ‐H19 gene plays a significant role in regulating glioma cell function
ConclusionLncRNA-H19 gene plays a carcinogenic role in glioma progression via enhancing aggressive behavior of glioma cells. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2021 Category: Genetics & Stem Cells Authors: Ping Liu, Xinqiong Huang, Haijun Wu, Guoling Yin, Liangfang Shen Tags: ORIGINAL ARTICLE Source Type: research

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann –Steiner syndrome
ConclusionOur study would aid in further broadening our knowledge about the genotype –phenotype correlation of WSS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2021 Category: Genetics & Stem Cells Authors: Sukun Luo, Bo Bi, Wenqian Zhang, Rui Zhou, Wei Chen, Peiwei Zhao, Yufeng Huang, Li Yuan, Xuelian He Tags: ORIGINAL ARTICLE Source Type: research

Association of NQO1 levels and its genetic polymorphism with susceptibility to methamphetamine dependence
Our results indicated that  NQO1 mRNA levels increased in PBMCs and its plasma protein levels decreased in METH dependence. And, the T allele and carried T genotypes ofNQO1 609C/T polymorphism increased the risk of METH dependence. AbstractBackgroundThe quinone oxidoreductase 1 (NQO1) gene was involved in the pathophysiological process of illicit drugs abuse, and its polymorphisms might be associated with methamphetamine (METH) dependence susceptibility. The purpose of this study was to examine theNQO1 mRNA and protein levels and to analyze the 609C/T polymorphism (rs1800566) between METH-dependent patients ...
Source: Molecular Genetics & Genomic Medicine - September 1, 2021 Category: Genetics & Stem Cells Authors: Huan Liu, Wei Zhang, Xiao ‐Dong Deng, Ying Ma, Yun Liu Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 30, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

The value of primary transcripts to the clinical and non ‐clinical genomics community: Survey results and roadmap for improvements
ConclusionsWe present our roadmap to create an effective default set of transcripts for resources, and for reporting interpretation of clinical variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 26, 2021 Category: Genetics & Stem Cells Authors: Joannella Morales, Aoife C. McMahon, Jane Loveland, Emily Perry, Adam Frankish, Sarah Hunt, Irina M. Armean, Paul Flicek, Fiona Cunningham Tags: ORIGINAL ARTICLE Source Type: research

Next ‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 25, 2021 Category: Genetics & Stem Cells Authors: Thomas Liehr, Nicole Fleischer, Ahmed Al ‐Rikabi Tags: LETTER TO THE EDITOR Source Type: research

The clinico ‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome
ConclusionsThe characteristic clinico-radiological features can help in the early diagnosis of MSUD children, thus preventing the delay in laboratory diagnosis and improving their outcomes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 25, 2021 Category: Genetics & Stem Cells Authors: Montaser M. Mohamed, Mohamed A. Bakheet, Rofaida M. Magdy, Heba S. El ‐Abd, Mohamad Hasan Alam‐Eldeen, Hany M. Abo‐Haded Tags: ORIGINAL ARTICLE Source Type: research

Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India
ConclusionOur study provides the results of screening of the largest Bengali infertile men sample genotyped with the maximum number of STS markers spanning the entire length of Y chromosome long arm. Y chromosome microdeletion is a significant genetic etiology of infertility among Bengali men. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 24, 2021 Category: Genetics & Stem Cells Authors: Saurav Dutta, Pranab Paladhi, Samudra Pal, Gunja Bose, Papiya Ghosh, Ratna Chattopadhyay, Baidyanath Chakravarty, Sujay Ghosh Tags: ORIGINAL ARTICLE Source Type: research

Genetic and clinical heterogeneity in Korean patients with Rubinstein –Taybi syndrome
ConclusionsTo date, this is the largest cohort of patients with RSTS includingEP300-related patients in Korea. Future large-scale studies to find genetic mutation of molecularly unsolved patients and long-term prospective studies are required to validate our results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 24, 2021 Category: Genetics & Stem Cells Authors: Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong ‐Hee Chae, Soo Yeon Kim, Jung Min Ko Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel COL10A1: c.1952 G > T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method
ConclusionWe identified a new disease-causing variant inCOL10A1. Cell-free fetal DNA in maternal peripheral blood can be used as the rapid and noninvasive prenatal diagnostic method to detect the pathogenic/or likely pathogenic variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 23, 2021 Category: Genetics & Stem Cells Authors: Yanchou Ye, Weihao Li, Guan Wang, Longsheng Zhan, Junwei Lin, Tian Li, Jun Zhang Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image is based on the Clinical ReportThe VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome by Chen Cheng et al.,https://doi.org/10.1002/mgg3.1710. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 18, 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: FEATURED COVER Source Type: research

Issue Information
(Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 18, 2021 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
ConclusionsIn this case report, a pathogenic splicing variant in theCOL2A1 gene was identified in a Mongolian family affected with Stickler syndrome type I by exome sequencing. This heterozygous splicing variant inCOL2A1 (NM_001844.4:C.2518-1G>A) that may impair splicing, which was suggested by in silico prediction. Next-generation sequencing is helpful for the differential diagnosis of this clinically variable and genetically heterogeneous disorder. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 18, 2021 Category: Genetics & Stem Cells Authors: Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu Tags: CLINICAL REPORT Source Type: research

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
ConclusionsOur study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio-WES in detecting and facilitating the diagnosis of UPD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 18, 2021 Category: Genetics & Stem Cells Authors: Hua Wang, Liang Huo, Yajian Wang, Weiwei Sun, Weiyue Gu Tags: CLINICAL REPORT Source Type: research

Phenotypes and genotypes in non ‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
ConclusionOur findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 17, 2021 Category: Genetics & Stem Cells Authors: Sarah Duerinckx, Julie D ésir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Dev Tags: ORIGINAL ARTICLE Source Type: research

Compounded with hemoglobin Port Phillip and ‐α4.2 or ‐‐SEA deletions were identified in Chinese population
ConclusionHere we first time identified two patients compound with Hb Port Phillip and - α4.2 and --SEA deletions, respectively, which had never been reported. Our study widens the genotypes of hemoglobinopathy and provides reference for genetic counselling and prenatal diagnosis in this population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 16, 2021 Category: Genetics & Stem Cells Authors: Li Du, Xiuqin Bao, Danqing Qin, Jicheng Wang, Cuize Yao, Jie Liang, Jianhong Chen, Aihua Yin Tags: CLINICAL REPORT Source Type: research

Family caregivers of rare disease: A survey on health ‐related quality of life in family caregivers for Gaucher disease patients in China
Participating FCs of patients with GD had significantly lower scores in all eight SF-36 domains compared with the general population in China (p 
Source: Molecular Genetics & Genomic Medicine - August 13, 2021 Category: Genetics & Stem Cells Authors: Jiao Xu, Han Bao, Xinye Qi, Jiahui Wang, Hang Yin, Chunyang Shang, Rachel Leeyin Tan, Qunhong Wu, Weidong Huang Tags: ORIGINAL ARTICLE Source Type: research

A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy
ConclusionTherefore, we suggestPALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: Angelina Beer, Ricardo Beck, Anne Schedel, Malte Bonin, J örn Meinel, Ulrike Anne Friedrich, Maria Menzel, Meinolf Suttorp, Sebastian Brenner, Guido Fitze, Björn Lange, Ralf Knöfler, Julia Hauer, Franziska Auer Tags: CLINICAL REPORT Source Type: research

Neurocognitive follow ‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation
ConclusionThe long-term observations are sparse in PMD andSHANK3 mutations. This is the neurocognitive follow-up from childhood to middle ages, where a sharp neurocognitive decline was observed. We conclude that progressive neuropsychiatric symptoms in adolescence are a universal clinical clue for PMD diagnosis and an underlyingSHANK3 splicing site mutation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 10, 2021 Category: Genetics & Stem Cells Authors: Minna Kankuri ‐Tammilehto, Oili Sauna‐aho, Maria Arvio Tags: ORIGINAL ARTICLE Source Type: research

Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders
ConclusionOur results point to a total loss of CDK10/CycM activity in the Al Kaissi patient and a partial loss in the STAR patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 9, 2021 Category: Genetics & Stem Cells Authors: Thomas Robert, Anne ‐Catherine Dock‐Bregeon, Pierre Colas Tags: ORIGINAL ARTICLE Source Type: research

Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family.
ConclusionTaken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function ofNFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 7, 2021 Category: Genetics & Stem Cells Authors: Bojian Li, Tingting Li, Tian Pu, Chunjie Liu, Sun Chen, Kun Sun, Rang Xu Tags: ORIGINAL ARTICLE Source Type: research

The associations of CNR1 SNPs and haplotypes with vulnerability and treatment response phenotypes in Han Chinese with major depressive disorder: A case –control association study
ConclusionTheCNR1 is a promising candidate for the genetic association study of MDD. Larger and well-characterized samples are required to confirm the genetic association ofCNR1 with MDD because of the limitations such as relatively small sample size and lack of information for correcting confounding factors. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 6, 2021 Category: Genetics & Stem Cells Authors: Chenghao Yang, Ilja M. Nolte, Yanyan Ma, Xuguang An, Fokko J. Bosker, Jie Li Tags: ORIGINAL ARTICLE Source Type: research

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene
ConclusionsWe identified a novel,de novo variant in the fifthACVR1 coding exon (NM_001111067.4:c.772A>T; NP_001104537.1:p.(R258W)). This substitution, never reported in association with FOP, affects a conserved arginine residue in the kinase domain of the protein.In silico analysis predicted the pathogenicity of this substitution, demonstrated byin vitro assays showing that the p.R258W ACVR1 mutated receptor acquires the ability to transduce the aberrant Activin A-mediated signaling, as observed for the gene variants associated with FOP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 5, 2021 Category: Genetics & Stem Cells Authors: Serena Cappato, Rasa Traberg, Jolita Gintautiene, Federico Zara, Renata Bocciardi Tags: CLINICAL REPORT Source Type: research

Exome sequencing identifies a disease variant of the mitochondrial ATP ‐Mg/Pi carrier SLC25A25 in two families with kidney stones
ConclusionThe transporter is important in regulating mitochondrial ATP production. This rare variant may increase urine lithogenicity through impaired provision of ATP for solute transport processes in the kidney, and/or for purinergic signaling. Variants found in other genes may compound this abnormality. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 4, 2021 Category: Genetics & Stem Cells Authors: M. Reza Jabalameli, Fiona M. Fitzpatrick, Roberto Colombo, Sarah A. Howles, Gary Leggatt, Valerie Walker, Akira Wiberg, Edmund R. S. Kunji, Sarah Ennis Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome
ConclusionWe described a novel Thr119Arg mutation in HDAC8 in a patient displaying the major phenotypic traits of the CdLS. Our results suggest that a modest change outside an active site is capable of triggering global structural changes that propagate through the protein scaffold to the catalytic site, creating de facto haploinsufficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante Tags: CLINICAL REPORT Source Type: research

Congenital cataract: An ocular manifestation of classical homocystinuria
ConclusionThis variant was reported first time in association with congenital cataract instead of ectopia lentis. Congenital cataract was developed secondarily in these patients and provided a clue for the early diagnosis of metabolic disorders like homocystinuria to prevent further complications and morbidity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: Neelam Saba, Saba Irshad Tags: ORIGINAL ARTICLE Source Type: research

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA) —Report of two cases and literature review
ConclusionsPatients with aATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 3, 2021 Category: Genetics & Stem Cells Authors: Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska ‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Plo Tags: CLINICAL REPORT Source Type: research

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II
ConclusionOur study identified a novelPCNT mutation associated with MOPD II, expanded the mutation spectrum of thePCNT gene and improved our understanding of the molecular basis of MOPD II. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Haifeng Liu, Na Tao, Yan Wang, Yang Yang, Xiaoli He, Yu Zhang, Yuantao Zhou, Xiaoning Liu, Xingxing Feng, Meiyuan Sun, Fang Xu, Yanfang Su, Li Li Tags: CLINICAL REPORT Source Type: research

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
ConclusionOur work broadens the mutation spectrum ofCOG6 gene and states the importance of whole-exome sequencing in facilitating the definitive diagnosis of this disorder and prenatal diagnosis in a subsequent pregnancy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 31, 2021 Category: Genetics & Stem Cells Authors: Peiwei Zhao, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He Tags: ORIGINAL ARTICLE Source Type: research

The c.863A > G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
ConclusionThese results suggest that the c.863A>G (p.Glu288Gly) homozygous variant is not a pathogenic variation, but a benign variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 31, 2021 Category: Genetics & Stem Cells Authors: Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou Tags: ORIGINAL ARTICLE Source Type: research

MLPA followed by target ‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
ConclusionDue to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well-studied populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 30, 2021 Category: Genetics & Stem Cells Authors: Mar ía Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Mila Tags: ORIGINAL ARTICLE Source Type: research

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified
ConclusionThis study contributes to the enlargement of the mutational spectrum of theATP7B gene among the population of China and highlights the significance of genetic testing for asymptomatic patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 29, 2021 Category: Genetics & Stem Cells Authors: Zhongyan Xiao, Yuan Yang, Hui Huang, Haiyan Tang, Liqun Liu, Jianguang Tang, Xiaoliu Shi Tags: ORIGINAL ARTICLE Source Type: research