皮肤性病诊疗学杂志2024，Vol.31Issue(8)：529-535,7.DOI:10.3969/j.issn.1674-8468.2024.08.004
常染色体隐性遗传性少毛症7型1例并文献复习
A case of autosomal recessive hypotrichosis type 7 and literature review
张肖晗 1苗青 1王聪慧 1王惠敏1
作者信息
- 1. 郑州大学第一附属医院,河南 郑州 450052
- 折叠
摘要
Abstract
Objective To report a case of autosomal recessive hypotrichosis type 7,and to dis-cuss the mutations of LIPH gene in this family.Methods The clinical data of the case were col-lected.The genomic DNA was extracted from the peripheral blood of the patient and her parents.The high-throughput sequencing method was used to detect the sequence mutations of each exon in the coding region of all genes,and the gene mutation sites were determined.The mutant genes were verified by PCR-Sanger sequencing and bioinformatics analysis.Results The patient had a compound heterozygous mutations of LIPH gene c.409C＞T(p.Gln137*)in exon 2 and c.742C＞A(p.His248Asn)in exon 6,which were from the patient's father and mother,respectively.c.409C＞T(p.Gln137)had not been reported before.The results of bioinformatics analysis showed that the 137th Gln sequence and 248th His sequence of LIPH protein were highly con-served in multiple species.The structures of the corresponding proteins were altered after the mu-tation of the two sites compared to wild-type proteins,and the two mutations were suspected to be pathogenic mutations according to ACMG guidelines.Conclusion The compound heterozygous mutations of LIPH gene c.409C＞T(p.Gln137*)in exon 2 and c.742C＞A(p.His248Asn)in exon 6 are the cause of autosomal recessive hypotrichosis type 7 in this case.关键词
遗传性少毛症/常染色体隐性/LIPH基因Key words
hereditary hypotrichosis/autosomal recessive/LIPH gene引用本文复制引用
张肖晗,苗青,王聪慧,王惠敏..常染色体隐性遗传性少毛症7型1例并文献复习[J].皮肤性病诊疗学杂志,2024,31(8):529-535,7.
