title: Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
abstract: Autosomal-recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair and is associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of either gene results in phenotypes with features of both wooly hair (WH) and hypotrichosis. In this study, we identified two Guyanese families with ARWH. Both families are of recent Indian descent. Mutation analysis resulted in the identification of mutations in the LIPH gene in both families. Affected individuals in the first family carry compound heterozygous mutations Ex7_8del and 1303_1309dupGAAAACG in the LIPH gene, while those in the second family have a homozygous mutation 659_660delTA in the LIPH gene. The mutations Ex7_8del and 659_660delTA were identified earlier in several Pakistani families with ARWH. Haplotype analysis using microsatellite markers close to the LIPH gene defined a founder haplotype shared in families from Pakistan and Guyana. Proteomic analysis of hair shaft samples from one of the families revealed no substantial changes among the proteins identified, indicating that the syndrome does not involve global alterations in protein expression. Our results further suggest a crucial role of LIPH gene in hair growth.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, USA.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Muhammad
authors.initials: M
authors.lastname: Wajid
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: Young-Jin
authors.initials: YJ
authors.lastname: Lee
authors.forename: Robert H
authors.initials: RH
authors.lastname: Rice
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D018703:Founder Effect; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D040901:Proteomics
chemical_list: C504173:LIPC protein, human; D008049:Lipase