Department of Ophthalmology, Eye and ENT Hospital, Fudan University, No. 83 Fenyang Road, Shanghai, 200000, Xuhui District, China.
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China.
BMC Med Genomics. 2023 Nov 21;16(1):299. doi: 10.1186/s12920-023-01738-x.
This research investigated the genetic characteristic of two Chinese families with keratoconus (KC).
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.
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.
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.
本研究调查了两个中国圆锥角膜（KC）家系的遗传特征。
收集了两个 KC 家系中所有患者的病史、临床资料和外周血。招募了 100 名无 KC 的健康对照者和 112 名散发 KC 患者作为对照。对所有对照者和家系成员进行全外显子组测序和聚合酶链反应以验证变异。使用软件程序对变异进行功能分析。
在家族 1 中检测到错义结节性硬化症 1（TSC1）变异 g.135797247A>G（c.622A>G，p.Ser208Gly）。在家族 2 中检测到醛脱氢酶 3 家族成员 A1（ALDH3A1）基因中的单核苷酸多态性（SNP）rs761232139（p.Gly235Arg）。TSC1 中的变异 c.622A>G 和 ALDH3A1 中的 SNP rs761232139 被预测为可能具有破坏性。
在 KC 家系中检测到 TSC1 中的新型变异 c.622A>G 和 ALDH3A1 中的 SNP rs761232139。这两个发现可能在 KC 的发病机制中起作用。
