Lin Qinghong, Zheng Lin, Shen Zhengwei
Refractive Surgery Department, Hefei Bright Eye Hospital, Hefei, Anhui Province, China.
Ophthalmic Genet. 2022 Apr;43(2):159-163. doi: 10.1080/13816810.2021.2015788. Epub 2021 Dec 13.
This study aims to investigate the genetic abnormalities in a two-generation Chinese family affected by keratoconus (KC). A two-generation Chinese family affected by KC was studied.
A total of 118 unrelated healthy individuals without KC were recruited as controls. The family history, clinical data, and peripheral blood leukocytes were collected from all subjects. Whole exome sequencing was performed using the genomic DNA of the proband (II.2) and the other two affected family members (I.1 and II.3). Afterwards, polymerase chain reaction was performed for the other enrolled subjects to verify the variants identified in family members with KC. The PolyPhen2, SIFT, PROVEIN and Mutation Taster software programs were applied to analyze the functional consequences of the variants.
A single nucleotide polymorphism (VARIANT) (c.1406 G > A [rs759370852]) in the transforming growth factor beta-induced () gene was identified in all affected family members, which resulted in a p.R469H amino acid change. This variant was not detected in the controls. The variant c.1406 G > A in was predicted as probably damaging with software programs.
A novel variant c.1406 G > A in has been identified, and probably contributes to the pathogenesis of KC.
本研究旨在调查一个受圆锥角膜（KC）影响的两代中国家庭中的基因异常情况。对一个受KC影响的两代中国家庭进行了研究。
共招募118名无KC的无关健康个体作为对照。收集了所有受试者的家族史、临床数据和外周血白细胞。使用先证者（II.2）和其他两名受影响家庭成员（I.1和II.3）的基因组DNA进行全外显子组测序。之后，对其他入组受试者进行聚合酶链反应，以验证在KC家庭成员中鉴定出的变异。应用PolyPhen2、SIFT、PROVEIN和Mutation Taster软件程序分析变异的功能后果。
在所有受影响家庭成员中均鉴定出转化生长因子β诱导（）基因中的一个单核苷酸多态性（VARIANT）（c.1406 G > A [rs759370852]），该变异导致p.R469H氨基酸改变。在对照中未检测到该变异。软件程序预测中的变异c.1406 G > A可能具有破坏性。
已鉴定出中的一个新变异c.1406 G > A，其可能与KC的发病机制有关。
