Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China.
Genet Test Mol Biomarkers. 2020 May;24(5):249-255. doi: 10.1089/gtmb.2019.0231. Epub 2020 Apr 3.
To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to analyze the candidate mutation. The proband and her parents suffered from congenital bilateral profound hearing loss. Her mother exhibited bilateral blue irides. WS1 was diagnosed in the proband and her mother according to the Waardenburg syndrome consortium criteria: the calculated W index of the proband was 2.39 and that of her mother was 2.31. A novel mutation c.1076_1077del (p.Thr359fs) in exon 7 of the gene was identified in the proband and her mother that was absent in the father and controls. Mutations in exon 7 of the gene are rare. We identified a novel frameshift mutation in exon 7 of the gene that we determined was responsible for WS1 in this family.
为了确定一个中国家庭中 1 型 Waardenburg 综合征（WS1）的临床特征和遗传原因。对先证者及其父母进行了评估，包括病史、临床特征和听力测试。使用下一代测序panel 针对 144 个已知的耳聋基因进行了基因分析。使用生物信息学分析对候选突变进行了分析。先证者及其父母均患有先天性双侧重度感音神经性听力损失。其母亲表现为双侧蓝虹膜。根据 Waardenburg 综合征联合会标准，先证者和其母亲被诊断为 WS1：先证者的 W 指数为 2.39，其母亲的 W 指数为 2.31。在先证者及其母亲中发现了基因外显子 7 中的一个新的 c.1076_1077del(p.Thr359fs)突变，而在父亲和对照中未发现该突变。基因外显子 7 中的突变较为罕见。我们在该家系中鉴定到了基因外显子 7 中的一个新的移码突变，我们确定该突变导致了 WS1。
