Liu Min, Xia Jia-Li, Yang Hong, Yu Ling
Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.
Department of Ophthalmology, The People's Hospital of Wenjiang Chengdu, Chengdu, Sichuan Province, China.
Ophthalmic Genet. 2022 Aug;43(4):538-542. doi: 10.1080/13816810.2022.2051192. Epub 2022 Mar 16.
In this case report, we have described congenital inherited endothelial dystrophy (CHED) caused by two heterozygous missense mutations in two patients.
A Chinese family affected by CHED was recruited to identify potential genetic mutations. The proband developed bilateral corneal opacity after birth, and was diagnosed with CHED based on the clinical manifestations. Her younger sister had the same symptoms. Blood samples were collected from four members of the family, including the two sisters and their parents, and full exon sequencing (WES) was used to identify potential genetic mutations in the proband. To verify the identified mutations, Sanger sequencing was performed on samples from other family members.
Two heterozygous missense variants were found in , a variant NM_032034.4; c.1237 G > A (p.G413R, rs1286683365) in exon 10 and a variant NM_032034.4, c. 698 G > T (p.R233L) in exon 6, and the latter was reported for the first time in this disease. Bioinformatics tools, such as SIFT and PolyPhen, showed that changes in these two amino acids probably affected protein function.
This study reported the typical clinical symptoms of CHED caused by two heterozygous missense variants (c.1237 G > A and c. 698 G > T) in the gene in a Chinese family.
在本病例报告中，我们描述了两名患者因两个杂合错义突变导致的先天性遗传性内皮营养不良（CHED）。
招募了一个受CHED影响的中国家庭以鉴定潜在的基因突变。先证者出生后即出现双侧角膜混浊，根据临床表现被诊断为CHED。她的妹妹有相同症状。采集了该家庭四名成员（包括两姐妹及其父母）的血样，采用全外显子测序（WES）鉴定先证者的潜在基因突变。为验证所鉴定的突变，对其他家庭成员的样本进行了Sanger测序。
在 中发现了两个杂合错义变异，一个是外显子10中的变异NM_032034.4；c.1237 G>A（p.G413R，rs1286683365），另一个是外显子6中的变异NM_032034.4，c.698 G>T（p.R233L），后者在该疾病中首次报道。SIFT和PolyPhen等生物信息学工具显示，这两个氨基酸的变化可能影响蛋白质功能。
本研究报告了一个中国家庭中由 基因的两个杂合错义变异（c.1237 G>A和c.698 G>T）引起的CHED的典型临床症状。
