Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
February 2020
in “
The journal of gene medicine
”
atrichia with papular lesions irreversible alopecia HR gene nonsense mutation whole exome sequencing Sanger sequencing bioinformatic studies variant prioritization Sanger validation segregation analysis prenatal diagnosis carrier screening genetic counseling APL hair loss genetic mutation gene sequencing mutation analysis
TLDR A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
In a study conducted on two consanguineous Kashmiri families with atrichia with papular lesions (APL), a rare form of irreversible alopecia, researchers identified a recurrent nonsense mutation in the HR gene responsible for the condition. The mutation (NM_005144: c.2818C > T:p.Arg940*) was found in exon 13 of the HR gene through whole exome and Sanger sequencing, followed by bioinformatic studies, variant prioritization, Sanger validation, and segregation analysis. The study concluded that whole exome sequencing is a more efficient and economical approach for identifying mutations in single gene disorders like APL, compared to Sanger sequencing alone. The findings could aid in prenatal diagnosis, carrier screening, and genetic counseling for APL in the Kashmiri population.
