Author:
Lin Qinghong,Wang Xuejun,Han Tian,Zhou Xingtao
Abstract
Abstract
Background
This research investigated the genetic characteristic of two Chinese families with keratoconus (KC).
Methods
For all people in the two families with KC, their history, clinical data, and peripheral blood were collected. One hundred healthy participants without KC and 112 sporadic KC patients were recruited as the controls. Whole exome sequencing of the genomic DNA and polymerase chain reaction were conducted for all the controls and family members to verify the variants. Functional analyses of the variants was performed using the software programs.
Results
A missense tuberous sclerosis 1 (TSC1) variant g.135797247A > G (c.622A > G, p.Ser208Gly) was detected in family 1. A single nucleotide polymorphism (SNP) rs761232139 (p.Gly235Arg) in aldehyde dehydrogenase 3 family member A1 (ALDH3A1) gene was detected in family 2. The variant c.622A > G in TSC1 and the SNP rs761232139 in ALDH3A1 were predicted as being probably damaging.
Conclusions
Novel variant c.622A > G in TSC1 and SNP rs761232139 in ALDH3A1 have been detected in families with KC. These two findings may play a role in the pathogenesis of KC.
Funder
National Natural Science Foundation of China for Young Scholars
Shanghai Sailing Program
National Natural Science Foundation of China
Project of Shanghai Science and Technology
Clinical Research Plan of SHDC
Project of Shanghai Xuhui District Science and Technology
Shanghai Engineering Research Center of Laser and Autostereoscopic 3D for Vision Care
construction of a 3D digital intelligent prevention and control platform for the whole life cycle of highly myopic patients in the Yangtze River Delta
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
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