Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

• 作者: Sirous Zeinali Leila Youssefian Hassan Vahidnezhad Amir Hossein Saeidian Soheila Sotoudeh Hamideh Bagherian Jouni Uitto
• 来源期刊: 国际皮肤性病学杂志（英文）
• 年，卷（期）: 2021,（2）
• 所属期刊栏目: Original Articles
• 页码范围: 82-85
• 页数: 4页
• 语种: 中文
• DOI: 10.1097/JD9.0000000000000168

摘要

Objective:Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes.The conventional mutation detection strategy consists of sequencing of individual candidate genes separately,a time consuming and costly approach.In this study,we perform genome-wide single nucleotide polymorphism(SNP)array to identify candidate genes of hereditary hypotrichosis.Methods:A consanguineous family with two patients with hereditary hypotrichosis was enrolled,and autozygosity mapping by genome-wide SNP array was utilized to identify candidate genes.Results:Autozygosity mapping delineated runs of homozygosity,and alignment of the 11 genes identified the hairless(HR)gene as the candidate gene.Nucleotide sequencing revealed a novel homozygous mutation c.381delT,p.Ser127ArgfsTer40.Conclusion:This study illustrates how autozygosity mapping by a high-density SNP array streamlines mutation detection in heritable skin diseases.