Hu Qiuming, Ma Huazhong, Shen Jiawei, Zhuang Zongming, Li Jianqiang, Huang Xinlan, Li Xian, Li Haoyu
Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Department of Ophthalmology, Pingguo People's Hospital, Baise, China.
Front Genet. 2021 Mar 4;12:609040. doi: 10.3389/fgene.2021.609040. eCollection 2021.
Waardenburg Syndrome Type 1 (WS1) is a rare hereditary disease, which is usually caused by the mutations of (). Here, we reported a pedigree with WS1, which was caused by a novel mutation in . In this present report, a 10-year-old boy and his twin sister from a Han Chinese family presented with iris pigmentary abnormality, synophrys, and broad and high nasal root. Their father presented premature whitening of the hair, but no iris pigmentary abnormality. Their aunts presented the same clinical characteristics with the twins and premature graying of hair. However, none of the patients reported hearing loss. The clinical diagnosis of the four patients from this pedigree was WS1. The whole exome sequencing (WES) revealed a novel mutation (c.959-5T>G) in the gene, which could be responsible for the observed pathogenic of WS1 in this pedigree. The genetic test confirmed the diagnosis of WS1 in the four patients from the studied pedigree. This present study demonstrated that genetic test based on WES, an effective alternative to regular clinical examinations, helps diagnose WS1. The newly identified gene mutation can expand the understanding of WS1.
1型瓦登伯革氏综合征（WS1）是一种罕见的遗传性疾病，通常由（）的突变引起。在此，我们报告了一个由（）中的一种新突变导致的WS1家系。在本报告中，一个来自汉族家庭的10岁男孩及其双胞胎妹妹表现出虹膜色素异常、连眉以及宽阔高耸的鼻梁。他们的父亲有早发性白发，但无虹膜色素异常。他们的姑姑与这对双胞胎有相同的临床特征且有早发性白发。然而，这些患者均未报告有听力损失。该家系中这四名患者的临床诊断为WS1。全外显子组测序（WES）在（）基因中发现了一种新突变（c.959 - 5T>G），该突变可能是导致此家系中观察到的WS1致病性的原因。基因检测证实了所研究家系中这四名患者患有WS1。本研究表明，基于WES的基因检测作为常规临床检查的一种有效替代方法，有助于诊断WS1。新发现的（）基因突变能够扩展对WS1的认识。
