1The Genetic and Prenatal Diagnosis Center, the Department of Obstetrics and Gynecology, the FirstAffiliated Hospital of Zhengzhou University, Zhengzhou 450000, China2Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000,China
Abstract：Objective: To analyze the clinical manifestations and genetic etiology of nonsyndromic ocular Sticklersyndrome type I (STLI) patients, and to provide them with the theoretical basis for gene diagnosis, geneticcounseling and prenatal diagnosis. Methods: This was a experimental study. Clinical data from 3 familieswere collected and genomic DNA was extracted from the peripheral blood of patients and related subjects.Whole exome sequencing was used to screen suspicious gene mutations, and Sanger sequencing was usedto verify the candidate mutations and investigate the mutation-carrying status of other members of thefamilies. The Human Gene Mutation Database (HGMD) and PubMed databases were searched for thepathogenicity reports of the candidate gene mutations, and pathogenicity was judged according to TheAmerican College of Medical Genetics and Genomics (ACMG) guidelines. Results: Pathogenic genevariations for Stickler syndrome type I was detected in all 3 families. The patients in family 1 carried theheterozygous variation of COL2A1 c.1693C>T (p.R565C), a patient in family 2 carried the heterozygousvariation of COL2A1 c.2862C>T (p.G954=), and a patient in family 3 carried the heterozygous variationof COL2A1 c.2355+1G>A (spilling). The three variants were identified through conservative analysisand functional prediction and then classified as pathogenic according to ACMG guidelines. Conclusions:Whole exome sequencing and other molecular genetic techniques are of great significance for thetiological diagnosis of atypical STL1. The cause of the disease in the patients of the families in this studywas detected and effective genetic counseling and prenatal diagnosis was carried out.
白周现1 邵敬芝2 吴庆华1 孔祥东1. 非典型Stickler综合征I型三个家系的遗传分析及产前诊断[J]. 中华眼视光学与视觉科学杂志, 2021, 23(9): 656-661.
Zhouxian Bai1, Jingzhi Shao2, Qinghua Wu1, Xiangdong Kong1. Genetic Analysis and Prenatal Diagnosis of Three Families with NonsydromicOcular Stickler Syndrome Type I. Chinese Journal of Optometry Ophthalmology and Visual science, 2021, 23(9): 656-661. DOI: 10.3760/cma.j.cn115909-20210226-00075
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