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

B Zuo; L L Wang; L Mao; G E Xu; S P Sun; W Lu

doi:10.3760/cma.j.cn115330-20240117-00033

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

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Mar 7;59(3):249-252. doi: 10.3760/cma.j.cn115330-20240117-00033.

[Article in Chinese]

Authors

B Zuo¹, L L Wang¹, L Mao², G E Xu², S P Sun¹, W Lu¹

Affiliations

¹ Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
² Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou 450052, China.

PMID: 38561264
DOI: 10.3760/cma.j.cn115330-20240117-00033

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。.

Publication types

Case Reports

MeSH terms

Amelogenesis Imperfecta* / genetics
Hearing Loss, Sensorineural* / genetics
Humans
Mutation
Nails, Malformed*
Phenotype

Supplementary concepts

Deafness enamel hypoplasia nail defects