Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

Human hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.