Insertion of an Alu ‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
ConclusionsThe insertion of a truncated AluSx like element intoMLH1 intron 7 results in aberrant splicing and transcription, thereby causing Lynch syndrome. This study confirms that retrotransposon insertions may be an important mechanism for cancer predisposition. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 15, 2020 Category: Genetics & Stem Cells Authors: Yirong Li, Erin Salo ‐Mullen, Anna Varghese, Magan Trottier, Zsofia K. Stadler, Liying Zhang Tags: ORIGINAL ARTICLE Source Type: research

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
DiscussionA disease ‐causing reciprocal translocation between chromosome 1 and 18 with a breakpoint in theSMAD4 locus co ‐segregated with JP‐HHT in an extended family. This observation warrants further analysis for chromosomal rearrangements in individuals with clinical HHT or JP‐HHT of unknown cause. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 15, 2020 Category: Genetics & Stem Cells Authors: Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. T ørring Tags: CLINICAL REPORT Source Type: research

A respiratory/Hirschsprung phenotype in a three ‐generation family associated with a novel pathogenic PHOX2B splice donor mutation
ConclusionThis report is significant as noPHOX2B splice ‐site mutations have been reported. Additionally, it highlights the variability in clinical expression and disease severity of non‐PARM mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 13, 2020 Category: Genetics & Stem Cells Authors: Nikolai Paul Pace, Michael Pace Bardon, Isabella Borg Tags: CLINICAL REPORT Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 10, October 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 12, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Cover
The cover image is based on the Original ArticleGenome ‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1 by Alexander Pemov et al.,https://doi.org/10.1002/mgg3.1400. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 12, 2020 Category: Genetics & Stem Cells Authors: Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson Tags: FEATURED COVER Source Type: research

A follow ‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
ConclusionThese findings offer a better understanding of the spectrum ofMITF mutations and highlight the necessity of continuous hearing assessment in WS patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 12, 2020 Category: Genetics & Stem Cells Authors: Shuzhi Yang, Cuicui Wang, Chengyong Zhou, DongYang Kang, Xin Zhang, Huijun Yuan Tags: ORIGINAL ARTICLE Source Type: research

De novo variants in WDR45 underlie beta ‐propeller protein‐associated neurodegeneration in five independent families
ConclusionOur study reports four patients with new variants inWDR45, which expands the mutation spectrum ofWDR45. In addition, our findings provide an early and precise diagnosis basis of BPAN, which is helpful for accurate genetic counseling and prenatal diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 10, 2020 Category: Genetics & Stem Cells Authors: Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu Tags: ORIGINAL ARTICLE Source Type: research

Whole ‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
ConclusionOur results expand the mutational spectrum ofDYNC2LI1 in severe skeletal ciliopathies. WES facilitates the accurate prenatal diagnosis of fetal skeletal ciliopathy, and provides helpful information for genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 8, 2020 Category: Genetics & Stem Cells Authors: Xinyue Zhang, Yanqin You, Xiaoxiao Xie, Hong Xu, Honghui Zhou, Yuanmei Lei, Pei Sun, Yuanguang Meng, Longxia Wang, Yanping Lu Tags: ORIGINAL ARTICLE Source Type: research

Mitochondrial DNA deletion and duplication in Kearns –Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia
ConclusionsOur findings are compatible with the phenotypic and genetic presentation of PMPS and KSS. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with PMPS, who later evolved to KSS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 8, 2020 Category: Genetics & Stem Cells Authors: Vanessa Sabella ‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Pilar Garavito‐Galofre Tags: CLINICAL REPORT Source Type: research

Compound heterozygous loss of function variants in MYL9 in a child with megacystis –microcolon–intestinal hypoperistalsis syndrome
In this manuscript, we describe a proband with a clinical diagnosis of congenital MMIHS and two rare compound heterozygous loss of function variants in MYL9, which we confirmed to be in trans by parental testing. To our knowledge, this is only the second peer ‐reviewed report of a genetically characterized case of MYL9‐associated MMIHS and supports the gene‐disease association between MYL9 and MMIHS with an autosomal recessive inheritance pattern. We conclude that MYL9 be targeted on genetic testing panels for MMIHS, smooth muscle myopathies, and c ardiovascular phenotypes. AbstractMegacystis –microcolon–...
Source: Molecular Genetics & Genomic Medicine - October 8, 2020 Category: Genetics & Stem Cells Authors: Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue Tags: CLINICAL REPORT Source Type: research

Detection of novel Fabry disease ‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening
ConclusionDelayed diagnosis should be avoided in patients with FD. Our results will help clinicians diagnose FD and determine the appropriate treatment for patients with these variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 4, 2020 Category: Genetics & Stem Cells Authors: Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura Tags: ORIGINAL ARTICLE Source Type: research

Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management
ConclusionIt was first reported that positive pancreatic islet autoantibodies diabetes onset of JHH resulted from loss ‐of‐function mutations ofHAMP, of which the atypical JHH should be differentially diagnosed with type 1 diabetes at the onset. Early administration of phlebotomy and vital organs protection and surveillance might be important for the treatment of atypical JHH. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 4, 2020 Category: Genetics & Stem Cells Authors: Hui ‐Xuan Wu, Jun‐Ying Liu, De‐Wen Yan, Long Li, Xiang‐Hua Zhuang, Hai‐Yan Li, Zhi‐Guang Zhou, Hou‐De Zhou Tags: ORIGINAL ARTICLE Source Type: research

Screening lncRNAs with diagnostic and prognostic value for human stomach adenocarcinoma based on machine learning and mRNA ‐lncRNA co‐expression network analysis
ConclusionOur study identified three DElncRNAs as potential diagnostic biomarkers of STAD. Among them, LINC01235 also was a prognostic lncRNA biomarkers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2020 Category: Genetics & Stem Cells Authors: Qun Li, Xiaofeng Liu, Jia Gu, Jinming Zhu, Zhi Wei, Hua Huang Tags: ORIGINAL ARTICLE Source Type: research

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree
ConclusionsThese are the first findings of a non ‐consanguineous Chinese pedigree with a homozygousNSUN2 variant. We expanded the phenotypic spectrum associated withNSUN2 variations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2020 Category: Genetics & Stem Cells Authors: Songyang Sun, Lin Chen, Yuchuan Wang, Jian Wang, Niu Li, Xike Wang Tags: ORIGINAL ARTICLE Source Type: research

Forensic applications and genetic characterization of Liaoning Han population revealed by extended set of autosomal STRs
ConclusionGoldenEyeTM 20A kit detects high diversity in the Liaoning Han population. These STRs which are part of this kit can be used for forensic investigations. Population genetic analysis showed that the Han population is different from the minority populations of Xinjiang. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 28, 2020 Category: Genetics & Stem Cells Authors: Jiang Du, Yefang Diao, Allah Rakha, Fuad Ameen, Muneera D. F. AlKahtani, Atif Adnan Tags: ORIGINAL ARTICLE Source Type: research

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review
ConclusionThis report adds to the genotype ‐phenotype correlation, highlighting the clinical importance of consideringMAP3K1 gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 27, 2020 Category: Genetics & Stem Cells Authors: Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni Tags: CLINICAL REPORT Source Type: research

Genomic study of dilated cardiomyopathy in a group of Mexican patients using site ‐directed next generation sequencing
ConclusionThis is the first NGS study performed in a group of Mexican DCM patients, contributing to understand the mutational spectrum and complexity of DCM molecular diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 23, 2020 Category: Genetics & Stem Cells Authors: Alessandra Carnevale, Sandra Rosas ‐Madrigal, Rigoberto Rosendo‐Gutiérrez, Enrique López‐Mora, Sandra Romero‐Hidalgo, Nydia Avila‐Vazzini, Leonor Jacobo‐Albavera, Mayra Domínguez‐Pérez, Gilberto Vargas‐Alarcón, Fernando Pére Tags: ORIGINAL ARTICLE Source Type: research

Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease
ConclusionThe four novel variants inPKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 23, 2020 Category: Genetics & Stem Cells Authors: Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun Tags: ORIGINAL ARTICLE Source Type: research

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
ConclusionOur findings suggest that an interval of greater than 18  months from the original report may be optimal for reanalysis. We also recommend a multi‐faceted strategy for cases remaining unsolved after singleton ES. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 22, 2020 Category: Genetics & Stem Cells Authors: Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez Tags: ORIGINAL ARTICLE Source Type: research

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient
ConclusionTo our best knowledge, this is the first report of HMGCSD in Iran which would expand our knowledge about the mutational spectrum of theHMGCS2 gene and the phenotype variations of the disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 22, 2020 Category: Genetics & Stem Cells Authors: Masoud Heidari, Morteza Soleyman ‐Nejad, Alireza Isazadeh, Javad Shapouri, Mohammad Hossein Taskhiri, Roghayyeh Ahangari, Ali Reza Mohamadi, Masoumeh Ebrahimi, Hadi Karimi, Manzar Bolhassani, Zahra Karimi, Mansour Heidari Tags: ORIGINAL ARTICLE Source Type: research

The genetic basis for the inverse relationship between rheumatoid arthritis and schizophrenia
ConclusionThe finding of our study is consistent with the role of the major histocompatibility complex locus in the genetic correlation between rheumatoid arthritis and schizophrenia, and suggests that either schizophrenia has an autoimmune basis and/or rheumatoid arthritis has an active neurological component. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 22, 2020 Category: Genetics & Stem Cells Authors: Mansour Zamanpoor, Hamid Ghaedi, Mir Davood Omrani Tags: ORIGINAL ARTICLE Source Type: research

Screening of germline mutations in young Rwandan patients with breast cancers
ConclusionThis preliminary study suggests that the frequency of germline mutations in young Rwandan patients with breast cancer is similar to the observations made in Caucasians. However, further large studies including patients and controls are needed to better understand the impact of genetic factors as well as the environmental risk factors in the development of breast cancer in young Rwandans. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 21, 2020 Category: Genetics & Stem Cells Authors: Jeanne P. Uyisenga, Karin Segers, Aim é Z. Lumaka, Pacifique Mugenzi, Corinne Fasquelle, Bouchra Boujemila, Claire Josse, Leon Mutesa, Vincent Bours Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one ‐carbon metabolism networks
We present 64 candidate risk genes for NTDs, 56 of which are novel associations, and provide evidence of possible distinct molecular pathway roles for NTD risk in different ethnicities. AbstractBackgroundNeural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next ‐generation sequencing of a large patient cohort, we identify novel candidate genes in these two ...
Source: Molecular Genetics & Genomic Medicine - September 21, 2020 Category: Genetics & Stem Cells Authors: Paul Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley ‐Koch, Alanna C. Morrison, Hope Northrup, Kit Sing Au Tags: ORIGINAL ARTICLE Source Type: research

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis
ConclusionBy integrating NLP methods in CNVs postdetection pipeline, REDBot is a robust and rapid tool with clinical utility for prenatal and POC diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 21, 2020 Category: Genetics & Stem Cells Authors: Mengmeng Liu, Yunshan Zhong, Hongqian Liu, Desheng Liang, Erhong Liu, Yu Zhang, Feng Tian, Qiaowei Liang, David S. Cram, Hua Wang, Lingqian Wu, Fuli Yu Tags: METHOD Source Type: research

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l ‐hydroxylase deficiency in a Chinese cohort
ConclusionIn this study, we identified the mutation spectrum ofCYP21A2 gene in Chinese patients, especially the younger age cohort in pediatrics. Micro ‐conversions were the most popular mutations. Moreover, the genotypes and phenotypes were well correlated in this cohort of salt wasting 21‐OHD recruited from neonatal intensive care unit. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 20, 2020 Category: Genetics & Stem Cells Authors: Yang Liu, Jie Zheng, Nan Liu, Xiaowei Xu, Xinjie Zhang, Ying Zhang, Guoxu Li, Geli Liu, Chunquan Cai, Jianbo Shu Tags: ORIGINAL ARTICLE Source Type: research

Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis
ConclusionOf the 16 identified as under ‐expressed in 45,X cells and over‐expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future. (Source: Molecu...
Source: Molecular Genetics & Genomic Medicine - September 20, 2020 Category: Genetics & Stem Cells Authors: Mar ía Carolina Manotas, Juan Camilo Calderón, Liliana López-Kleine, Fernando Suárez-Obando, Olga M. Moreno, Adriana Rojas Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate
ConclusionWe concluded that c.382G>A, p.G128S represented a de novo mutation ofSLC26A3, a very rare event in autosomal recessive disorders. To our knowledge, this is the first CCD case involving a de novo novel mutation ofSLC26A3. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 19, 2020 Category: Genetics & Stem Cells Authors: Ken ‐ichiro Konishi, Tatsuki Mizuochi, Hitoshi Honma, Yuri Etani, Kazue Morikawa, Kazuko Wada, Ken Yamamoto Tags: ORIGINAL ARTICLE Source Type: research

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition
ConclusionOur results indicate thatNTHL1 p.Q90* heterozygous carriers do not have an increased risk for breast cancer and that the variant is unlikely to be a significant contributor to breast cancer risk at the population level. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 18, 2020 Category: Genetics & Stem Cells Authors: Timo Kumpula, Anna Tervasm äki, Tuomo Mantere, Susanna Koivuluoma, Laura Huilaja, Kaisa Tasanen, Robert Winqvist, Richarda M. Voer, Katri Pylkäs Tags: ORIGINAL ARTICLE Source Type: research

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
ConclusionA careful molecular characterization of the c.1335dup variant's effect explains the relationship between genotype and phenotype severity in a CHM patient and provides new perspectives for the study of therapeutic strategies based on splicing correction in human diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 18, 2020 Category: Genetics & Stem Cells Authors: Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi, Gabriella Esposito Tags: ORIGINAL ARTICLE Source Type: research

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD
ConclusionsThe study showed that the rate ofCFTR CNVs in Chinese population with CBAVD were basically consistent with the previous reports. And the study first revealed genetic risk of CNVs ofCFTR on a large sample size of CBAVD patients in Chinese Han population, which prompted that it was necessary to detect CNVs ofCFTR in Chinese Han people with CBAVD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 18, 2020 Category: Genetics & Stem Cells Authors: Chengquan Ma, Ruyi Wang, Tengyan Li, Hongjun Li, Binbin Wang Tags: ORIGINAL ARTICLE Source Type: research

A novel GABRB3 variant in Dravet syndrome: Case report and literature review
ConclusionA likely relationship between the novelGABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS ‐like linked withGABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related toGABRB3 mutations is reported. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 17, 2020 Category: Genetics & Stem Cells Authors: Piero Pavone, Xena Giada Pappalardo, Simona D. Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla Tags: CLINICAL REPORT Source Type: research

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early ‐onset dementia
ConclusionThis paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early ‐onset dementia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 15, 2020 Category: Genetics & Stem Cells Authors: Izadora Fonseca Zaiden Soares, Denise Maria Christofolini, Lis Gomes Silva, David Feder, Alzira Alves Siqueira Carvalho Tags: CLINICAL REPORT Source Type: research

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
ConclusionsOur findings support the expectation that a portion of MDC1A cases may be caused by at least one CNV allele and show how these changes can be effectively identified by additional analysis of existing exome data. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 15, 2020 Category: Genetics & Stem Cells Authors: Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini Tags: ORIGINAL ARTICLE Source Type: research

Direct ‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G > A: the consumer experience
ConclusionConsumers reported moderate rates of behavioral change and perceived personal benefit from receiving DTC genetic results for VTE risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 15, 2020 Category: Genetics & Stem Cells Authors: Sarah L. Elson, Nicholas A. Furlotte, Bethann S. Hromatka, Catherine H. Wilson, Joanna L. Mountain, Helen M. Rowbotham, Elizabeth A. Varga, Uta Francke Tags: ORIGINAL ARTICLE Source Type: research

Sjogren –Larsson Syndrome: A case series of five members from an extended family with a novel mutation
ConclusionsSLS should be suspected in any patient with a triad of ichthyosis, intellectual disability and spastic di/tetraplegia. Molecular genetic testing of theALDH3A2 gene should be performed to confirm the diagnosis. Extended family screening is highly recommended. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Kamel T. Abidi, Naglaa M. Kamal, Ayman A. Bakkar A., Maram Alotaibi, Haifa Asseri, Kawthar A. Bokari Tags: CLINICAL REPORT Source Type: research

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult ‐onset rod‐cone dystrophy caused by the c.1892A > G and c.2548G > A variants
ConclusionsTogether, these results confirm the pathogenicity of the c.1892A>G and c.2548G>ACRB1 variants in a family with recessive adult ‐onset rod‐cone dystrophy and further demonstrate the effects of these variants on pre‐mRNA splicing. This data provide important insights into the pathogenic mechanisms associated with these variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Xiao Zhang, Jennifer A. Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Luke Jennings, Samuel McLenachan, Fred K. Chen Tags: ORIGINAL ARTICLE Source Type: research

The single nucleotide variant at c.662A > G in human RRM2B is a loss ‐of‐function mutation
ConclusionIn conclusion, the functional assay in this study provided the direct evidence proving that the N221S variation is a loss ‐of‐function mutation and plausibly related to the pathogenic developmental defects found in the infants of previous clinical reports. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Yen ‐Tzu Tseng, Shang‐Wei Li, Wei‐Chun HuangFu, Yun Yen, I‐Hsuan Liu Tags: ORIGINAL ARTICLE Source Type: research

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann ‐Pick type C patient
ConclusionWe showed that theNPC1 silent polymorphism (p.V562V) is a disease ‐causing variant in NPC and that the UPR is upregulated in an NPC patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Marisa Encarna ção, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image is based on the Original ArticleInterpretation challenges of novel dual ‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia by Author Margot Cousin.,https://doi.org/10.1002/mgg3.1341 (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Joel A. Morales ‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee Tags: FEATURED COVER Source Type: research

Cover
The cover image is based on the Original ArticleGenetic determinants of circulating galectin ‐3 levels in patients with coronary artery disease by Semon Wu et al.,https://doi.org/10.1002/mgg3.1370 (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Yu ‐Huang Liao, Ming‐Sheng Teng, Jyh‐Ming J. Juang, Fu‐Tien Chiang, Leay‐Kiaw Er, Semon Wu, Yu‐Lin Ko Tags: FEATURED COVER Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 9, September 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A de novo heterozygous variant in the SON gene is associated with Zhu ‐Tokita‐Takenouchi‐Kim syndrome
ConclusionOur report expands the mutant spectrum of theSON gene and refines the genotype ‐phenotype map of ZTTK syndrome. Our findings also highlighted the importance of WES for early diagnosis of ZTTK syndrome, which may improve diagnostic procedures for affected individuals. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Lianlian Yang, Fan Yang Tags: CLINICAL REPORT Source Type: research

A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
Conclusion Genetic DNA sequencing is a crucial method for diagnosing BRMUTD. This approach enriches the genotype and spectrum of BRMUTD syndrome and the outcome of the patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Yan Zhang, Cai Mei Lin, Xiao Lan Zheng, Kuerbanjiang Abuduxikuer Tags: CLINICAL REPORT Source Type: research

Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1
ConclusionThere is a need to identify predictors of health service experiences at the patient and health service provider levels with the aim to tighten the gap between the health experiences of patients with and without rare disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Krister W. Fjermestad, Øivind Kanavin, Livø Nyhus, Lise B. Hoxmark Tags: LETTER TO THE EDITOR Source Type: research

Haploinsufficiency as a disease mechanism in GNB1 ‐associated neurodevelopmental disorder
ConclusionHere, we report two patients with functionally confirmed loss of function variants inGNB1 and neurodevelopmental phenotypes including intellectual disability, hypotonia, and seizures in one patient. These results suggest haploinsufficiency ofGNB1 is a mechanism for neurodevelopmental disorders in humans. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 11, 2020 Category: Genetics & Stem Cells Authors: Laura Schultz ‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee Tags: ORIGINAL ARTICLE Source Type: research

Quality of life and pain in patients with thalidomide embryopathy in Japan
ConclusionThis study demonstrate that although some patients with TE have some form of mental health problem, they still maintain a normal range QOL despite their disabilities. In addition, pain was not as strongly associated with mental health problems and QOL as would be expected, and variables such as “catastrophizing” to cope with pain appear to potentially be associated with reduced mental health and QOL. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2020 Category: Genetics & Stem Cells Authors: Koubun Imai, Hanae Sone, Ken Otomo, Yuki Nakano, Fumihiko Hinoshita Tags: ORIGINAL ARTICLE Source Type: research

Multimodal imaging and genetic characteristics of Chinese patients with USH2A ‐associated nonsyndromic retinitis pigmentosa
ConclusionsOur data further confirm that USH2A protein plays a pivotal role in the maintenance of photoreceptors and expand the spectrum ofUSH2A mutations that are associated with nonsyndromic RP in Chinese patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2020 Category: Genetics & Stem Cells Authors: Chong Chen, Qiao Sun, Mingmin Gu, Tianwei Qian, Dawei Luo, Kun Liu, Xun Xu, Suqin Yu Tags: ORIGINAL ARTICLE Source Type: research

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome
ConclusionThe p.(Asn340del) mutant protein behaves distinctly different from previously described AS ‐linked missense mutations in UBE3A, and causes a phenotype that is markedly different from AS. This study further extends the range of phenotypes that are associated with UBE3A loss, duplication, or mutation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 4, 2020 Category: Genetics & Stem Cells Authors: Amber Geerts ‐Haages, Stijn N. V. Bossuyt, Inge Besten, Hennie Bruggenwirth, Ineke Burgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar Tags: ORIGINAL ARTICLE Source Type: research

First report of a Mexican family with mutation in the CDH1 gene
ConclusionMedical communities should be aware of the contribution of this gene in the development of hereditary diffuse gastric carcinoma (HDGC) and breast cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2020 Category: Genetics & Stem Cells Authors: Carmen Mart ínez Valenzuela, Edmundo Erbey Castelán‐Maldonado, Octavio Carvajal‐Zarrabal, Ana Laura Calderón‐Garcidueñas Tags: CLINICAL REPORT Source Type: research

Prenatal diagnosis of a rare β‐thalassemia gene -90 (C > T) (HBB: c. ‐140 C > T) mutation associated with deletional Hb H disease ( ‐‐SEA/‐α4.2)
ConclusionWe reported a rare -90 (C>T) (HBB: c. ‐140 C>T) mutation combined with the ‐‐SEA/ ‐α4.2 in a family. This finding enriched the mutation spectrum of thalassemia molecular characteristics in China and emphasized the significance in DNA sequencing in mutation screening for the families with thalassemia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2020 Category: Genetics & Stem Cells Authors: Hou Qian, Jianlin Huang, Ji Xu, Weihua Zhao, Xiufeng Ye, Wenlan Liu Tags: CLINICAL REPORT Source Type: research