临床与病理杂志2024，Vol.44Issue(1)：141-146,6.DOI:10.11817/j.issn.2095-6959.2024.230653
MITF基因缺失突变致Waardenburg综合征2A型1例
MITF gene mutation in a family with Waardenburg syndrome type 2A
宋彬彬 1邓幼平1
作者信息
- 1. 武汉大学中南医院儿科,武汉 430071
- 折叠
摘要
Abstract
Waardenburg syndrome(WS)is an autosomal dominant genetic disorder characterized by abnormalities in hair,skin,eye pigmentation,and sensorineural hearing loss.This article reports a case of an 8-month-old male child with congenital deafness accompanied by bilateral grey-blue irises,yellowish hair color,and lateral displacement of the inner eye corners.The child and his family members underwent genetic sequencing analysis.The genetic testing results indicated a heterozygous mutation of c.970_972del(p.R324del)in the MITF gene in the child,which is a de novo mutation.Neither of the parents had a mutation at the same site.According to the American College of Medical Genetics and Genomics(ACMG)guidelines,this mutation was interpreted as a pathogenic variant.The MITF gene c.970_972del(p.R324del)represents a new mutation site in WS Type 2A and is the pathogenic gene causing the disease in this child.关键词
Waardenburg综合征2A型/MITF基因/耳聋/突变Key words
Waardenburg syndrome Type 2A/MITF gene/hearing loss/mutation引用本文复制引用
宋彬彬,邓幼平..MITF基因缺失突变致Waardenburg综合征2A型1例[J].临床与病理杂志,2024,44(1):141-146,6.
