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。
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.
作者
李翔倩
赵永平
赵梦曦
周城
Li Xiangqian;Zhao Yongping;Zhao Mengxi;Zhou Cheng(Department of Dermatology,Peking University People′s Hospital,Beijing 100044,China;Reproductive Medicine Center,Peking University People′s Hospital,Beijing 100044,China)
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2023年第7期672-676,共5页
Chinese Journal of Dermatology
基金
国家自然科学基金(81773311、82073459)。
