Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss
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.
familial hypotrichosis、hair loss、homozygosity mapping、mutation detection、hairless gene mutations
04
2023-05-30(万方平台首次上网日期,不代表论文的发表时间)
共4页
82-85