Hua Shengyuan, Ding Yu, Zhang Jia, Qian Qiufang, Li Ming
Department of Dermatology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai, China.
Dermatology Department of Mianyang Central Hospital, Mianyang, China.
J Dermatol. 2021 Mar;48(3):408-412. doi: 10.1111/1346-8138.15697. Epub 2020 Nov 22.
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.
单纯性少毛症（HS）是一种由多种基因突变引起的罕见遗传性脱发形式。目前，仅报道了四项与LSS相关的HS研究。在本研究中，我们试图对两个临床疑似HS的中国无关家庭中的三名儿科患者进行明确诊断。对这两个家庭进行了全外显子组测序（WES）以揭示致病突变。WES在两名先证者中发现了LSS中的两种不同的复合杂合突变，证实了诊断，其中包括三种新突变。在本文中，我们描述了一名HS患者牙齿发育异常的新伴随表型。此外，我们首次对所有报道的与LSS突变相关的患者进行了综述，并推断了一些潜在的基因型-表型相关性。
