Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family

In a study published in 2013, researchers identified a novel mutation in the HR gene responsible for atrichia with papular lesions (APL) in a consanguineous Pakistani family. The family had a four-generation pedigree with two affected individuals who exhibited hair loss within two weeks after birth and lacked body hair, eyelashes, eyebrows, and axillary and pubic hair. Genotyping of the family members showed linkage to the HR gene on chromosome 8 p21.1. The researchers discovered a G-to-A substitution at amino acid position 285 in exon 3 of the HR gene, resulting in a glycine to serine residue change. This mutation was found to be homozygous in the two affected individuals and was not present in 200 control individuals of Pakistani origin, indicating that it is not a neutral polymorphism in this population. The study concluded that this missense mutation is responsible for the APL phenotype in the affected family members.