scholarly journals Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100455 ◽  
Author(s):  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiangming Guo ◽  
Qingjiong Zhang
Keyword(s):  
Exome Sequencing ◽  
Congenital Cataracts ◽  
Chinese Families

scholarly journals Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Doudou Chen ◽  
Tao Yang ◽  
Siquan Zhu
Keyword(s):  
Exome Sequencing ◽  
Human Gene ◽  
Mendelian Inheritance ◽  
Illumina Hiseq ◽  
Congenital Cataracts ◽  
Chinese Families ◽  
Pathogenic Variants ◽  
Mutation Database ◽  
Genetics And Genomics ◽  
Cataract Patients

Purpose. To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. A novel CRYBB2: c.230G > T p.G77V variant was identified in family A, a novel CRYBB2: c.230G > A p.G77D variant was identified in family B, and a novel CRYGD: c.475delG p.A159Pfs∗9 variant was identified in family C. Conclusion. Panel-based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.

scholarly journals Novel mutations in CRYGC are associated with congenital cataracts in Chinese families

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Zilin Zhong ◽  
Zehua Wu ◽  
Liyun Han ◽  
Jianjun Chen
Keyword(s):  
Novel Mutations ◽  
Congenital Cataracts ◽  
Chinese Families

scholarly journals Novel mutations in HSF4 cause congenital cataracts in Chinese families

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Zongfu Cao ◽  
Yihua Zhu ◽  
Lijuan Liu ◽  
Shuangqing Wu ◽  
Bing Liu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Congenital Cataracts ◽  
Chinese Families

Whole Exome Sequencing of Six Chinese Families With Hereditary Non-Syndromic Hearing Loss: A Genetic Etiology Study

2020 ◽  
Author(s):  
Pengfei Liang ◽  
Fengping Chen ◽  
Shujuan Wang ◽  
Qiong Li ◽  
Wei Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Chinese Families ◽  
Whole Exome ◽  
Syndromic Hearing Loss

Abstract Background: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with >152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of the deaf probands from six unrelated Chinese families.Methods: After excluding the mutations in the most common genes, GJB2 and SLC26A4, 12 probands with prelingual deafness and autosomal recessive inheritance were evaluated by whole-exome sequencing (WES). All the candidate variants were verified by Sanger sequencing in all patients and their parents.Results: Biallelic mutations were identified in all deaf patients. Among these six families, 10 potentially causative mutations, including 3 reported and 7 novel mutations, in 3 different deafness-associated autosomal recessive (DFNB) genes (MYO15A, COL11A2, and CDH23) were identified. The mutations in MYO15A were frequent with 7/10 candidate variants. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family.Conclusions: Next-generation sequencing (NGS) approach becomes more cost-effective and efficient when analyzing large-scale genes compared to the conventional polymerase chain reaction-based Sanger sequencing, which is often used to screen common deafness-related genes. The current findings further extend the mutation spectrum of hearing loss in the Chinese population, which has a positive significance for genetic counseling.

Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing

Andrologia ◽  
2020 ◽  
Vol 52 (7) ◽  
Author(s):  
Qin Zhang ◽  
Hong‐hui He ◽  
Muhammad Usman Janjua ◽  
Fang Wang ◽  
You‐bo Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Kallmann Syndrome ◽  
Novel Mutations ◽  
Chinese Families ◽  
Whole Exome

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy

Cardiology ◽  
2016 ◽  
Vol 136 (1) ◽  
pp. 10-14 ◽  
Author(s):  
Ji-Shi Liu ◽  
Liang-Liang Fan ◽  
Hao Zhang ◽  
Xiaoxian Liu ◽  
Hao Huang ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Nonsense Mutation ◽  
Novel Mutations ◽  
Chinese Families ◽  
Structure Changes ◽  
Whole Exome ◽  
Gene Filtering

Objectives: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. Methods: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequencing was applied to confirm the mutation cosegregation in the affected families. Results: A nonsense mutation (c.12325C>T/p.R4109X) and a missense mutation (c.17755G>C/p.G5919R) of TTN were identified in 2 Chinese DCM families, respectively. Both mutations were cosegregated in all affected members of both families. The nonsense mutation is predicted to result in a truncated TTN protein and the missense mutation leads to a substitution of glycine by arginine. Both variants may cause the structure changes of titin protein. Conclusions: We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative.

Sign in / Sign up

Export Citation Format

Share Document