LSS基因突变导致先天性少毛症14型1家系

doi:10.35541/cjd.20210877

中华皮肤科杂志 ›› 2023, Vol. 56 ›› Issue (7): 672-676.doi: 10.35541/cjd.20210877

LSS基因突变导致先天性少毛症14型1家系

李翔倩¹ 赵永平² 赵梦曦¹ 周城¹

¹北京大学人民医院皮肤科，北京 100044；²北京大学人民医院生殖医学中心，北京 100044

收稿日期:2021-12-02 修回日期:2022-06-19 发布日期:2023-07-04
通讯作者: 周城 E-mail:chengzhou@live.cn
基金资助:
国家自然科学基金（81773311、82073459）

A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family

Li Xiangqian¹, Zhao Yongping², Zhao Mengxi¹, Zhou Cheng¹

¹Department of Dermatology, Peking University People′s Hospital, Beijing 100044, China; ²Reproductive Medicine Center, Peking University People′s Hospital, Beijing 100044, China

Received:2021-12-02 Revised:2022-06-19 Published:2023-07-04
Contact: Zhou Cheng E-mail:chengzhou@live.cn
Supported by:
National Natural Science Foundation of China （81773311, 82073459）

摘要/Abstract

摘要： 【摘要】目的报告1例伴有高促性腺激素性性腺功能减退症的先天性少毛症14型患者，并对其家系进行LSS基因突变分析。方法抽取先证者及其表型正常的父母的外周血，分别提取基因组DNA。采用二代测序技术，对基因组DNA进行毛发异常性疾病相关致病基因突变筛查，结合临床表型筛选可疑致病变异，Sanger测序方法验证，并在健康对照及HGMD、1000 Genomes和ExAC数据库中进行验证。结果先证者LSS基因第8号外显子存在c.812T>C（p.Ile271Thr）纯合错义突变，其父母均为突变携带者，健康对照及数据库中无该变异。结论 LSS基因的纯合突变c.812T>C可能为导致该家系患者出现先天性少毛症14型表型的原因，该突变为国内外未曾报道的新突变。

关键词: 稀毛症, DNA突变分析, 性腺功能减退症, 先天性少毛症14型, 遗传性单纯性少毛症, LSS基因

Abstract: 【Abstract】 Objective To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family. Methods Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database. Results The patient harbored a homozygous missense mutation c.812T>C （p.Ile271Thr） in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases. Conclusion The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.

Key words: Hypotrichosis, DNA mutational analysis, Hypogonadism, Congenital hypotrichosis 14, Hereditary hypotrichosis simplex, LSS gene

李翔倩赵永平赵梦曦周城. LSS基因突变导致先天性少毛症14型1家系[J]. 中华皮肤科杂志, 2023,56(7):672-676. doi:10.35541/cjd.20210877

Li Xiangqian, Zhao Yongping, Zhao Mengxi, Zhou Cheng. A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family[J]. Chinese Journal of Dermatology, 2023, 56(7): 672-676.doi:10.35541/cjd.20210877

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LSS基因突变导致先天性少毛症14型1家系

A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family

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