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

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

Article

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

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Mar 2024

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

Abstract excerpt

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。.

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

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