A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

The study investigated the genetic cause of non-syndromic woolly hair in a 13-year-old patient from a consanguineous Syrian family. Researchers identified a homozygous missense mutation c.736A>G in the P2RY5 gene, resulting in an asparagine to aspartic acid substitution (N246D) in the patient, and heterozygous in the parents. This mutation was not found in 100 controls from Lebanese and Pakistani populations. Histological analysis confirmed the absence of hair follicle miniaturization, supporting the diagnosis of non-syndromic woolly hair. The study concluded that the P2RY5 gene mutation causes autosomal recessive woolly hair in this patient, with the conserved nature of the mutated amino acid indicating its significance in P2Y5 protein function. The research was funded by a USPHS NIH grant.