title: Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia.
abstract: Hereditary leukonychia or porcelain nails is a nail dystrophy characterized by whitening of the nail plates in all nails of the hands and feet. It may exhibit an autosomal recessive or autosomal dominant pattern of inheritance. Mutations in the gene PLCD1 have been reported to underlie hereditary leukonychia. In the present study, two Pakistani families with autosomal recessive hereditary leukonychia were investigated. Affected members of the families exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Genotyping using microsatellite markers linked the families to the gene PLCD1 on chromosome 3p22.2. Sequence analysis of the gene detected one novel (p.Ser740ArgfsX19) and one previously reported mutation (p.Arg437X). This study expands spectrum of the mutations in the gene PLCD1 causing hereditary leukonychia.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Hina
authors.initials: H
authors.lastname: Mir
authors.forename: Saadullah
authors.initials: S
authors.lastname: Khan
authors.forename: Muhammad Shoaib
authors.initials: MS
authors.lastname: Arif
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Abdul
authors.initials: A
authors.lastname: Wali
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D016022:Case-Control Studies; D018389:Codon, Nonsense; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D018895:Microsatellite Repeats; D009260:Nail Diseases / Q000151:congenital* / Q000235:genetics; D054803:Phospholipase C delta / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; C518024:PLCD1 protein, human; D054803:Phospholipase C delta