中华耳科学杂志2024，Vol.22Issue(4)：579-582,4.DOI:10.3969/j.issn.1672-2922.2024.04.010
一个Alport综合征家庭的临床特征及遗传病因学分析
Clinical and Molecular Diagnosis in a Chinese Family with Alport Syndrome
摘要
Abstract
Objective To report clinical characteristics and causative variants in a Chinese family with Alport syndrome(AS).Methods Data of members from a family with AS who visited the Otorhinolaryngology Clinic of Nan-tong University Affiliated Hospital in December 2019,including the parents and two sisters,were collected.One of the sisters was diagnosed with AS(II-1),while the rest of the family members showed no abnormal clinical manifestations.Family-based genetic analysis and targeted next-generation sequencing(NGS)for deafness-related genes were per-formed in the proband,and the results were verified by Sanger sequencing,followed by co-segregation analysis in all family members.Pathogenicity of variations was interpreted in accordance with the American College of Medical Genet-ics(ACMG)guidelines.Results The proband exhibited persistent hematuria and sensorineural hearing loss without ocu-lar abnormalities.Compound heterozygous mutations in COL4A3 were identified in the proband,including c.4793T>G,p.L1598R,which was inherited from her father,and c.4981C>T,p.R1661C inherited from her mother.The bi-allelic mu-tations segregated in other family members were likely pathogenic in this family with autosomal recessive Alport syn-drome(ARAS),according to the ACMG guidelines.Conclusion Our results expand the COL4A3 mutation spectrum and phenotypic spectrum of ARAS.In addition,family-based genetic testing should be considered in routine diagnosis of patients suspected as having ARAS.关键词
遗传性耳聋/Alport综合征/COL4A3/基因突变Key words
hereditary hearing loss/Alport syndrome/COL4A3/gene mutation引用本文复制引用
王雪纯,征丹娅,吕雪岩,唐艳,吴笛,陆赛男,张鲁平..一个Alport综合征家庭的临床特征及遗传病因学分析[J].中华耳科学杂志,2024,22(4):579-582,4.基金项目
江苏省重点研发计划社会发展项目(BE2022764) （BE2022764）
