[Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].

[1 例 Heimler 综合征的表型和致病变异分析].

• 发表时间: 2024 Mar 7
• 来源期刊: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
• DOI: 10.3760/cma.j.cn115330-20240117-00033
• PMID: 38561264
• 文章类型: Case Reports
• 作者列表: Zuo B,Wang LL,Mao L,Xu GE,Sun SP,Lu W

Mesh: Humans; Phenotype; Mutation; Amelogenesis Imperfecta / genetics; Hearing Loss, Sensorineural / genetics; Nails, Malformed

Abstract

本文报道了1例Heimler综合征患儿，并确定了该家系的分子遗传基础，先证者携带NM_000466.3（PEX1）：c.2966T>C（p.Ile989Thr）和c.2783+2T>C两个变异位点。经Sanger测序验证c.2966T>C位点变异遗传自其母亲，c.2783+2T>C变异位点遗传自其父亲，并结合RNA测序进行变异功能验证，两个变异评级为致病。.