Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene
复制标题
中国单纯性少毛症患者LSS基因新突变
DOI：
10.1111/1346-8138.15697
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发表时间：
2020-11-22
影响因子：
3.1
通讯作者：
Li, Ming
中科院分区：
文献类型：
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作者：
Hua, Shengyuan;Ding, Yu;Li, Ming
单纯性脱发（HS）是一种罕见的遗传性脱发，由多种基因突变引起。目前，只有四项关于LSS相关HS的研究报告。在这项研究中，我们试图作出明确的诊断，在两个无关的中国家庭的三个儿童患者临床怀疑HS。对这两个家族进行了全外显子组测序（WES）以揭示致病突变。WES发现两个不同的复合杂合突变LSS在两个先证者，证实了诊断，包括三个新的突变。在本文中，我们描述了一个新的伴随表型的牙齿发育不良的HS患者。此外，我们提供了一个审查所有报告的LSS突变相关的患者，并推断一些潜在的基因型-表型的相关性首次。
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS-related HS have been reported. In this study, we try to make a definite diagnosis in two unrelated Chinese families with three pediatric patients clinically suspected of HS. Whole-exome sequencing (WES) was performed for these two families to reveal the pathogenic mutation. WES revealed two different compound heterozygous mutations in LSS in two probands that confirmed the diagnosis, including three novel mutations. In this paper, we describe a new accompanying phenotype of teeth dysplasia in a HS patient. Moreover, we provide a review of all reported LSS mutation-related patients and infer some potential genotype-phenotype correlations for the first time.