Supplementary Material for: A Novel Frameshift Variant of the <b><i>MITF</i></b> Gene in a Chinese Family with Waardenburg Syndrome Type 2

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1–WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor (<i>MITF</i>) gene. We detected a novel frameshift variant c.1025_1032delGGAACAAG (NM_198159) of <i>MITF</i> in 5 patients with WS2 from the same Chinese family by using targeted next-generation sequencing and Sanger sequencing. Phenotypic and genotypic analyses of the family members suggested that this novel variants was pathogenic. Our finding expands the spectrum of <i>MITF</i> variants.

瓦登伯革综合征（Waardenburg syndrome, WS）是一种罕见的遗传性疾病，以感音神经性听力损失及毛发、皮肤和虹膜色素异常的不同组合为特征。根据伴随症状的差异，WS可分为4种亚型（WS1至WS4）。其中WS2以无额外伴随症状为特征，其致病原因主要与小眼畸形相关转录因子（microphthalmia-associated transcription factor, MITF）基因的变异相关。本研究通过靶向二代测序与桑格测序，在同一个中国家系的5名WS2患者中检测到MITF基因的新型移码变异c.1025_1032delGGAACAAG（NM_198159）。对该家系成员的表型与基因型分析表明，该新型变异具有致病性。本研究的发现拓展了MITF基因变异的谱系。

搜集汇总

背景与挑战

背景概述

该数据集是关于瓦登伯格综合征2型（WS2）的补充材料，研究在一个中国家庭中发现了MITF基因的新移码变异（c.1025_1032delGGAACAAG），并通过靶向测序和表型分析确认其致病性，扩展了已知MITF变异谱。数据集提供了相关遗传和临床信息，支持罕见病研究。