Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
ConclusionsThis study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2019 Category: Genetics & Stem Cells Authors: Nasreen Khan, Raquel Cabo, Wen ‐Hann Tan, Regina Tayag, Lynne M. Bird Tags: ORIGINAL ARTICLE Source Type: research

MEIS1 knockdown may promote differentiation of esophageal squamous carcinoma cell line KYSE ‐30
ConclusionMEIS1 gene silencing in KYSE ‐30 cells increased expression of epithelial markers and decreased expression of epithelial‐mesenchymal transition (EMT) markerTWIST1. It may highlight the role ofMEIS1 in differentiation process of KYSE ‐30 cells. These results may confirm thatMEIS1 silencing promotes differentiation and decreases EMT capability of ESC cell line KYSE ‐30. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2019 Category: Genetics & Stem Cells Authors: Reihaneh Alsadat Mahmoudian, Bahareh Bahadori, Abolfazl Rad, Mohammad Reza Abbaszadegan, Mohammad Mahdi Forghanifard Tags: ORIGINAL ARTICLE Source Type: research

Autosomal dominant mitochondrial membrane protein ‐associated neurodegeneration (MPAN)
ConclusionsWe present three lines of clinical evidence to demonstrate that MPAN can manifest as a result of only one pathogenicC19orf12 sequence variant. We propose that truncated C19orf12 proteins, resulting from nonsense variants in the final exon in our autosomal dominant cohort, impair function of the normal protein produced from the non ‐mutated allele via a dominant negative mechanism and cause loss of function. These findings impact the clinical diagnostic evaluation and counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Dap Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel biomarkers and small molecule drugs in human colorectal cancer by microarray and bioinformatics analysis
ConclusionOur study found key dysregulated genes involved in CRC and potential drugs to combat it, which may provide novel insights and potential biomarkers for prognosis, as well as providing new CRC treatments. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Juan Chen, Ziheng Wang, Xianjuan Shen, Xiaopeng Cui, Yuehua Guo Tags: ORIGINAL ARTICLE Source Type: research

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature
ConclusionThis report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Hung ‐Hsiang Fang, Shih‐Yao Liu, Ying‐Fu Wang, Che‐Ming Chiang, Chiung‐Chen Liu, Chien‐Ming Lin Tags: CLINICAL REPORT Source Type: research

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
ConclusionThis report describes aKRT9 c.488G  >  A (p.Arg163Gln) variant causing a diffuse phenotype of Chinese EPPK. The current results broaden the spectrum ofKRT9 pathogenic variants responsible for EPPK and have important implications for molecular diagnosis, treatment, and genetic counseling for this family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 9, 2019 Category: Genetics & Stem Cells Authors: Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang Tags: CLINICAL REPORT Source Type: research

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
ConclusionFISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Ruiyi Tang, Lin Lin, Zaixin Guo, Haiyan Hou, Qi Yu Tags: CLINICAL REPORT Source Type: research

The influence of ACYP2 polymorphisms on gastrointestinal cancer susceptibility in the Chinese Han population
ConclusionOur study suggested that polymorphisms ofACYP2 gene might be associated with susceptibility to GI cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Xianglong Duan, Jiajing Hong, Fuchun Wang, Kun Wei, Pengyuan Wang, Feng Hou, Min Zhang, Dengfeng Liu, Dongya Yuan, Sida Liu Tags: ORIGINAL ARTICLE Source Type: research

Targeted fetal cell ‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study
ConclusionsTargeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Altug Koc, Ozge Ozer Kaya, Berk Ozyilmaz, Yasar B. Kutbay, Ozgur Kirbiyik, Taha R. Ozdemir, Kadri M. Erdogan, Merve Saka Guvenc, Deniz C. Oztekin, Mehmet Ozeren, Halil G. Pala, Atalay Ekin, Cenk Gezer, Alkim G. Sahingoz Yildirim, Bahar Konur Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
ConclusionUnderstanding genetic basis of obesity might provide  a clue for better management and treatment in times to come. This work demonstrates identification of novel mutation inLEPR gene resulting into early onset of obesity. Discovery of novel, population ‐specific genomics markers will help population screening programs in creating base for possible therapeutic applications and prevention of this disease for next generations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Arpan Bhatt, Charul Purani, Poonam Bhargava, Komal Patel, Tanvi Agarbattiwala, Apurvasinh Puvar, Krati Shah, Chaitanya G. Joshi, Nidhi Dhamecha, Mukund Prabhakar, Madhvi Joshi Tags: ORIGINAL ARTICLE Source Type: research

A mutation in Site ‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema
ConclusionThese findings suggest a critical function for S1P in several human organ systems and implicate an important role for S1P in various human disease states. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart Tags: CLINICAL REPORT Source Type: research

Genetic variants in the ITPR2 gene are associated with Kashin ‐Beck Disease in Tibetan
ConclusionThe results indicate a potential association betweenITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2019 Category: Genetics & Stem Cells Authors: Xue He, Mei Bai, Ming Liu, Li Wang, Yongjun He, Hao Rong, Dongya Yuan, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium
ConclusionThis study suggests that the Lys/Lys genotype confers susceptibility to BC risk among women of Asian ancestry, particularly for ER ‐positive, PR‐positive, and HER2‐negative tumor types. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2019 Category: Genetics & Stem Cells Authors: Tomotaka Ugai, Roger L. Milne, Hidemi Ito, Kristan J. Aronson, Manjeet K. Bolla, Tsun Chan, Ching W. Chan, Ji ‐Yeob Choi, Don M. Conroy, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Valerie Gaborieau, Anna Gonzalez‐Neira, Mikael Har Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 5, May 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A case of combined 21 ‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism
ConclusionAlthough these two disorders exhibit different modes of inheritance and their co ‐morbidity is extremely rare, we encountered one male patient who suffered from both 21‐OHD and CS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Satoko Umino, Miyuki Kitamura, Yuko Katoh ‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga Tags: CLINICAL REPORT Source Type: research

Diverse phenotypes in children with PAX2 ‐related disorder
ConclusionWe firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes ofPAX2‐related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom ofPAX2‐related disorder. The diagnosis ofPAX2‐related disorder should be considered without family history due to a much higher percentage ofDe novo mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Xiaoyu Liu, Baige Su, Hongwen Zhang, Ke Xu, Suxia Wang, Fang Wang, Jie Ding Tags: ORIGINAL ARTICLE Source Type: research

The Enamel Phenotype in Homozygous Fam83h Truncation Mice
ConclusionsConsideringFam83h−/− mice showed no enamel phenotype, whileFam83hTr/Tr (p.Tyr297*) mice displayed obvious enamel malformations, we conclude thatFAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Shih ‐Kai Wang, Yuanyuan Hu, Charles E. Smith, Jie Yang, Chunhua Zeng, Jung‐Wook Kim, Jan C‐C. Hu, James P. Simmer Tags: ORIGINAL ARTICLE Source Type: research

Transcriptome analysis identifies metallothionein as biomarkers to predict recurrence in hepatocellular cacinoma
ConclusionWe identified a group of Metallothionein genes as biomarkers to predict recurrence. The metallothionein genes were all down ‐regulated in tumor samples, suggesting that low metallothionein expression may be a promoter of tumor growth. In addition, using de novo assembly identified some unique biomarkers, further confirmed the necessity of conducting a de novo assembly in human cancer study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Sufang Wang, Michael Gribskov Tags: ORIGINAL ARTICLE Source Type: research

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next ‐generation sequencing technology
ConclusionsTargeted NGS panel was helpful in detecting typical ADPKD patients and even in non ‐typical PKD patients. Macromutation in HNF1B may lead to bilateral PKD. The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Tao Wang, Qinggang Li, Shunlai Shang, Guangrui Geng, Yuansheng Xie, Guangyan Cai, Xiangmei Chen Tags: ORIGINAL ARTICLE Source Type: research

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
ConclusionThis report expands the phenotypic spectrum of the disorder due toCCND2 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D ’Amico, Nicola Brunetti‐Pierri Tags: ORIGINAL ARTICLE Source Type: research

PMS2 germline mutation c.943C > T (p.Arg315*) ‐induced Lynch syndrome‐associated ovarian cancer
ConclusionCarryingPMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS ‐associated cancers. Thus, close clinical monitoring and prophylactic surgery is highly recommended to help reduce the morbidity and mortality of LS‐associated cancers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu Tags: ORIGINAL ARTICLE Source Type: research

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation
ConclusionOur patient illustrates the importance of recognizing this serious genetic condition for which preventive cancer screening options are available. The positive weight loss results after Sleeve Gastrectomy suggest that this could be a successful treatment option for obesity patients withPTEN mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2019 Category: Genetics & Stem Cells Authors: Mellody I. Cooiman, Lotte Kleinendorst, Bert Zwaag, Ignace M. C. Janssen, Frits J. Berends, Mieke M. van Haelst Tags: ORIGINAL ARTICLE Source Type: research

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype ‐phenotype correlation analyses of TP63‐related disorders
ConclusionWe reported that the cubitus valgus deformity in patients with EEC and severe taurodontism in a patient with AEC had not been mentioned previously. Our study expands the phenotypic spectrum of EEC and AEC syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 2, 2019 Category: Genetics & Stem Cells Authors: Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing ‐Wai Wong, Tao Cai, Hailan Feng, Dong Han Tags: ORIGINAL ARTICLE Source Type: research

Lnc ‐GIHCG promotes cell proliferation and migration in gastric cancer through miR‐ 1281 adsorption
ConclusionTaken together, we revealed the role ofGIHCG/miR ‐1281/TLE1 in GC and provided a new perspective. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 2, 2019 Category: Genetics & Stem Cells Authors: Guozheng Liu, Zaipeng Jiang, Mingliang Qiao, Fengyong Wang Tags: ORIGINAL ARTICLE Source Type: research

Long noncoding RNA NEAT1 regulates the development of osteosarcoma through sponging miR ‐34a‐5p to mediate HOXA13 expression as a competitive endogenous RNA
ConclusionThese results indicated thatNEAT1 participated in the development of osteosarcoma as a ceRNA to competitively bind to miR ‐34a‐5p and thus mediateHOXA13 expression. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Shaolin Ji, Shunsheng Wang, Xiaodan Zhao, Li Lv Tags: ORIGINAL ARTICLE Source Type: research

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
ConclusionOur study further emphasizes the involvement of the 22q11.2 region in BEEC development and highlightsLZTR1 as a candidate gene underlying the urogenital malformation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Johanna Lundin, Ellen Markljung, Izabella Baranowska K örberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld Tags: ORIGINAL ARTICLE Source Type: research

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4
ConclusionWe report the first Japanese familial case of PHA2 withWNK4 mutation. D564N mutation inWNK4 is a novel genetic cause of PHA2 with a relatively mild phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Takashi Sakoh, Akinari Sekine, Takayasu Mori, Hiroki Mizuno, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Noriko Hayami, Masayuki Yamanouchi, Tatsuya Suwabe, Naoki Sawa, Yoshifumi Ubara, Takuya Fujimaru, Eisei Sohara, Uchida Shinichi, Tags: ORIGINAL ARTICLE Source Type: research

A risk assessment model of acute liver allograft rejection by genetic polymorphism of CD276
ConclusionBy integrating both clinical and genetic variables, liver transplant recipients can be categorized into different risk groups, and might benefit from individualized therapies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Xiaobo Yu, Bajin Wei, Rong Su, Jia Yao, Xiaowen Feng, Guoping Jiang, Haiyang Xie, Jian Wu, Xiao Xu, Min Zhang, Shusen Zheng, Lin Zhou Tags: ORIGINAL ARTICLE Source Type: research

FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, M éxico
ConclusionThe identification of theFANCC c.67delG mutation in this family not only allows proper genetic counseling, but it also grants the possibility to raise awareness of FA risk among the Mennonite community living in Mexico. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Benilde Garc ía‐de Teresa, Sara Frias, Bertha Molina, María Teresa Villarreal, Alfredo Rodriguez, Alessandra Carnevale, Gerardo López‐Hernández, Lilia Vollbrechtshausen, Alberto Olaya‐Vargas, Leda Torres Tags: CLINICAL REPORT Source Type: research

miR ‐584‐5p regulates hepatocellular carcinoma cell migration and invasion through targeting KCNE2
ConclusionsThese results demonstrated thatmiR ‐584‐5p functions as an oncogenic miRNA in HCC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Huamei Wei, Jianchu Wang, Zuoming Xu, Yuan Lu, Xianjian Wu, Chenyi Zhuo, Chuan Tan, Qianli Tang, Jian Pu Tags: ORIGINAL ARTICLE Source Type: research

Analysis of deletional hereditary persistence of fetal hemoglobin/ δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China
ConclusionScreening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2019 Category: Genetics & Stem Cells Authors: Jie Zhang, Yang Yang, Peng Li, Yuanlong Yan, Tao Lv, Tingting Zhao, Xiaohong Zeng, Dongmei Li, Xiaoyan Zhou, Hong Chen, Jie Su, Tonghua Yang, Jing He, Baosheng Zhu Tags: ORIGINAL ARTICLE Source Type: research

Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts
ConclusionOur results imply thatBPIFC is a causative gene in this Chinese family with hereditary TCs. Further studies should be performed to validate the role ofBPIFC in the pathogenesis of this disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 29, 2019 Category: Genetics & Stem Cells Authors: Xian ‐Guo Fu, Zhao Huang, Su‐Juan Zhou, Jing Yang, Yun‐Juan Peng, Luo‐Yuan Cao, Hua Guo, Guang‐Hui Wu, Ying‐Hua Lin, Bao‐Ying Huang Tags: ORIGINAL ARTICLE Source Type: research

A rapid and accurate methylation ‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
ConclusionThe MS ‐HRM showed good performance with a unique pair of primers, dispensing electrophoresis gel analysis, offering a quick and reproducible diagnostic. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 29, 2019 Category: Genetics & Stem Cells Authors: Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Let ícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, Let Tags: METHOD Source Type: research

Cognition in adults with Williams syndrome —A 20‐year follow‐up study
In adults with Williams syndrome, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co ‐morbidities may expose to shortened life span. AbstractBackgroundWilliams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70 –79) or abnormally low intelligence (IQ 
Source: Molecular Genetics & Genomic Medicine - April 29, 2019 Category: Genetics & Stem Cells Authors: Oili Sauna ‐aho, Nina Bjelogrlic‐Laakso, Auli Sirén, Virpi Kangasmäki, Maria Arvio Tags: ORIGINAL ARTICLE Source Type: research

Estimation of CYP3A4*1B single nucleotide polymorphism in patients with recurrent Major Depressive Disorder
ConclusionThe study suggests thatCYP3A4*1Bpolymorphism have no influence on the predisposition to depression, the severity of depressive symptoms and the efficiency of antidepressant therapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 25, 2019 Category: Genetics & Stem Cells Authors: Rafa ł Świechowski, Agnieszka Jeleń, Marek Mirowski, Monika Talarowska, Piotr Gałecki, Jacek Pietrzak, Damian Wodziński, Ewa Balcerczak Tags: ORIGINAL ARTICLE Source Type: research

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice ‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
ConclusionThis case demonstrates the deficiencies of WES and traditional molecular analyses and highlights the advantages of utilization of WGS and functional studies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 25, 2019 Category: Genetics & Stem Cells Authors: Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network, Christopher Adams, David Adams, Mercedes Alejandro, Patrick Allard, Tags: CLINICAL REPORT Source Type: research

BRPF1 ‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
ConclusionThe reported family contributes to the current knowledge regarding this unique and newly recognized genetic disorder, and further implicates the role ofBRPF1 in human brain development. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 24, 2019 Category: Genetics & Stem Cells Authors: Naomi Pode ‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat Tags: ORIGINAL ARTICLE Source Type: research

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss
ConclusionOur study expanded the mutational spectrum ofTMPRSS3 to include complex genomic rearrangements. It showcased the importance of an integrative approach to investigate CNVs and their contribution to HL. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 23, 2019 Category: Genetics & Stem Cells Authors: Xinlei Li, Bo Tan, Xiaoqian Wang, Xiaofei Xu, Cuicui Wang, Mingjun Zhong, Qiuling Zhao, Zhongwei Bao, Weihua Peng, Lei Zhang, Jing Cheng, Yu Lu, Peina Wu, Huijun Yuan Tags: ORIGINAL ARTICLE Source Type: research

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
ConclusionsThis finding illustrates the first reported case of a child with an overlap with Pfeiffer syndrome to have the p.Ala391Glu variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 23, 2019 Category: Genetics & Stem Cells Authors: Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes Tags: ORIGINAL ARTICLE Source Type: research

Myeloid malignancies ‐related somatic mutations in aging individuals
We search for the presence of somatic mutations in 12 genes related to MDS, MPN, and AML in a Brazilian cohort composed of 609 elderly individuals from a census ‐based sample. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 21, 2019 Category: Genetics & Stem Cells Authors: Diego F. Coutinho, Ilana R. Zalcberg, B árbara C. R. Monte‐Mór Tags: LETTER TO THE EDITOR Source Type: research

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy
ConclusionOur systematic approach of ascertaining congenital anomalies resulted in explaining the etiology of congenital anomalies in 47% of fetuses after the termination of pregnancy. By using array comparative genomic hybridization, we found that copy number variations represent an important part in the etiology of multiple, as well as isolated congenital anomalies, which indicates the importance of analyzing copy number variations in the diagnostic approach of fetuses with congenital anomalies after the termination of pregnancy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 19, 2019 Category: Genetics & Stem Cells Authors: Gorazd Rudolf, Luca Lovre čić, Nataša Tul, Nataša Teran, Borut Peterlin Tags: ORIGINAL ARTICLE Source Type: research

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low ‐pass whole‐genome sequencing
We developed the Noninvasively Prenatal Subchromosomal Copy number variation Detection (NIPSCCD) method based on low ‐pass whole‐genome sequencing (WGS) in this study. Evaluation of NIPSCCD with clinical samples showed good performance on prenatal testing of fetal CNVs, and high sensitivity and specificity in the detection of trisomy 21/18/13. AbstractBackgroundExpanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive dete...
Source: Molecular Genetics & Genomic Medicine - April 19, 2019 Category: Genetics & Stem Cells Authors: Dongyi Yu, Kai Zhang, Meiyan Han, Wei Pan, Ying Chen, Yunfeng Wang, Hongyan Jiao, Ling Duan, Qiying Zhu, Xiaojie Song, Yan Hong, Chen Chen, Juan Wang, Feng Hui, Linzhou Huang, Chongjian Chen, Yang Du Tags: ORIGINAL ARTICLE Source Type: research

Associations of intercellular adhesion molecule ‐1 rs5498 polymorphism with ischemic stroke: A meta‐analysis
In this study, a meta ‐analysis was performed to better assess the relationship betweenICAM ‐1rs5498 polymorphism and IS.MethodsPubMed, Medline, Embase, and CNKI were searched for eligible studies. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) to evaluate associations betweenICAM ‐1 rs5498 polymorphism and IS.ResultsTotally 16 studies with 2,596 cases and 11,800 controls were analyzed. A significant association with IS was observed for rs5498 polymorphism in GG versus AA  + AG (recessive model,p = 0.009, OR = 1.62, 95% CI 1.13–2.32,I2 = 76%) in overal...
Source: Molecular Genetics & Genomic Medicine - April 17, 2019 Category: Genetics & Stem Cells Authors: Hua Gao, Xinhua Zhang Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel mutations in preaxial polydactyly patients through whole ‐exome sequencing
ConclusionOur study highlights the important roles of primary cilia in limb development, and helps to further understand the molecular mechanisms for polydactyly formation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 16, 2019 Category: Genetics & Stem Cells Authors: Tao Wang, Zhaopeng Xuan, Yichen Dou, Yang Liu, Yanyan Fu, Jingyan Ren, Laijin Lu Tags: ORIGINAL ARTICLE Source Type: research

IgG4 ‐related disease: Association with a rare gene variant expressed in cytotoxic T cells
ConclusionsThe presence of a shared deleterious variant and homozygous common variant in FGFBP2 in the proband and sons strongly implicates this cytotoxic T cell product in the pathophysiology of IgG4 ‐RD. The high prevalence of a common FGFBP2 variant in sporadic IgG4‐RD supports the likelihood of participation in disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 16, 2019 Category: Genetics & Stem Cells Authors: John H. Newman, Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, Derek Riebau, Hugues Allard ‐Chamard, William M. Stone, Cory Perugino, Mark Pilkinton, Scott A. Smith, Wyatt J. McDonnell, John A Tags: CLINICAL REPORT Source Type: research

Cover
The cover image based on Original ArticlePilot study of a novel multi ‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening by Yuqin Luo et al., DOI:10.1002/mgg3.597. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 15, 2019 Category: Genetics & Stem Cells Authors: Yuqin Luo, Bei Jia, Kai Yan, Siping Liu, Xiaojie Song, Mingfa Chen, Fan Jin, Yang Du, Juan Wang, Yan Hong, Sha Cao, Dawei Li, Minyue Dong Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 4, April 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 15, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy ‐associated genes among children undergoing exome sequencing reflect healthy population variation
ConclusionsIncidentally identified variants are common among pediatric WES testing with gene frequencies similar to “background” variants. Incidentally identified variants are unlikely to be pathologic. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 15, 2019 Category: Genetics & Stem Cells Authors: Andrew T. Headrick, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Daniel J. Penny, Jeffrey J. Kim, Andrew P. Landstrom Tags: ORIGINAL ARTICLE Source Type: research

Association of OPG gene polymorphisms with the risk of knee osteoarthritis among Chinese people
ConclusionOur results verify that genetic variants ofOPG contribute to knee OA susceptibility in the population of northern China. These genetic associations may identify individuals at a particularly high risk of developing knee OA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 11, 2019 Category: Genetics & Stem Cells Authors: Yuxin Qi, Feimeng An, Jiaqi Wang, Yuan Liu, Hongyan Gao, Zhe Ge, Enze Jiang, Donggao Cai, Jianping Shi, Jianzhong Wang Tags: ORIGINAL ARTICLE Source Type: research

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
ConclusionThis case expands the phenotypic spectrum of CSS manifestations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 11, 2019 Category: Genetics & Stem Cells Authors: Gerarda Cappuccio, Raffaella Brunetti ‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri Tags: ORIGINAL ARTICLE Source Type: research