scholarly journals Novel mutations associated with autosomal‑dominant congenital cataract identified in Chinese families

2019 ◽  
Author(s):  
Zhenyu Wang ◽  
Chen Huang ◽  
Yanxiu Sun ◽  
Huibin Lv ◽  
Mingzhou Zhang ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Novel Mutations ◽  
Chinese Families ◽  
Autosomal Dominant Congenital Cataract

scholarly journals Novel mutations associated with autosomal dominant congenital cataract are identified in Chinese families

2018 ◽  
Author(s):  
Zhenyu Wang ◽  
Chen Huang ◽  
Yanxiu Sun ◽  
Huibin Lv ◽  
Mingzhou Zhang ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Bioinformatics Analysis ◽  
Genetic Defect ◽  
Hereditary Disease ◽  
The Other ◽  
Novel Mutations ◽  
Chinese Families ◽  
Functional Changes ◽  
Autosomal Dominant Congenital Cataract

AbstractPurposeAs the leading cause of the impairment of vision of children, congenital cataract is considered as a hereditary disease, especially autosomal dominant congenital cataract (ADCC). The purpose of this study is to identify the genetic defect of six Chinese families with ADCC.Subjects and MethodsSix Chinese families with ADCC were recruited in the study. (103 members in total, 96 members alive, 27 patients in total) Genomic DNA samples extracting from probands’ peripheral blood cells were captured the mutations using a specific eye disease enrichment panel with next generation sequencing. After initial pathogenicity prediction, sites with specific pathogenicity were screened for further validation. Sanger sequencing was conducted in the other individuals in the families and other 100 normal controls. Mutations definitely related with ADCC will then be analyzed by bioinformatics analysis. The pathogenic effect of the amino acid changes and structural and functional changes of the proteins were finally analyzed by bioinformatics analysis.ResultsSeven mutations in six candidate genes associated with ADCC of six families were detected (MYH9 c.4150G>C, CRYBA4 c.169T>C, RPGRRIP1 c.2669G>A, WFS1 c.1235T>C, CRYBA4 c.26C>T, EPHA2 c.2663+1G>A, and PAX6 c.11–2A>G). All the seven mutations were only detected on affected individuals in the families. Among them there are three novel mutations (MYH9 c.4150G>C, CRYBA4 c.169T>C, RPGRRIP1 c.2669G>A) and four that have been reported (WFS1 c.1235T>C, CRYBA4 c.26C>T, EPHA2 c.2663+1G>A, and PAX6 c.11–2A>G). RPGRIP1 (c.2669G>A) mutation and CRYBA4 (c.26C>T) mutation are predicted to be benign according to bioinformatics analysis while the other five mutations (EPHA2, PAX6, MYH9, CRYBA4 c.169T>C, WFS1) are thought to be pathogenic.ConclusionWe report two novel heterozygous mutations (MYH9 c.4150G>C and CRYBA4 c.169T>C) in six Chinese families supporting their vital roles in causing ADCC.

scholarly journals A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

2007 ◽  
Vol 120 (9) ◽  
pp. 820-824 ◽  
Author(s):  
Jun WANG ◽  
Xu MA ◽  
Feng GU ◽  
Ning-pu LIU ◽  
Xiao-lin HAO ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Autosomal Dominant Congenital Cataract

scholarly journals Connexin46 Mutations in Autosomal Dominant Congenital Cataract

1999 ◽  
Vol 64 (5) ◽  
pp. 1357-1364 ◽  
Author(s):  
Donna Mackay ◽  
Alexander Ionides ◽  
Zoha Kibar ◽  
Guy Rouleau ◽  
Vanita Berry ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Autosomal Dominant Congenital Cataract

scholarly journals A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

2020 ◽  
Vol 41 (2) ◽  
pp. 131-134
Author(s):  
Vanita Berry ◽  
Nikolas Pontikos ◽  
Lubica Dudakova ◽  
Anthony T. Moore ◽  
Roy Quinlan ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Autosomal Dominant Congenital Cataract

scholarly journals Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

2017 ◽  
Vol 25 (6) ◽  
pp. 711-718 ◽  
Author(s):  
Owen M Siggs ◽  
Shari Javadiyan ◽  
Shiwani Sharma ◽  
Emmanuelle Souzeau ◽  
Karen M Lower ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Partial Duplication ◽  
Autosomal Dominant Congenital Cataract

scholarly journals A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

2010 ◽  
Vol 32 (1) ◽  
pp. E1939-E1947 ◽  
Author(s):  
Binbin Wang ◽  
Changhong Yu ◽  
Yi-Bo Xi ◽  
Hong-Chen Cai ◽  
Jing Wang ◽  
...  
Keyword(s):  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Autosomal Dominant Congenital Cataract
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