title: A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
abstract: Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of affected individuals. Two forms of such hypotrichosis LAH and AH have been mapped on chromosome 18q12.1 and 3q27, respectively. Mutations in desmogelin 4 (DSG4) gene have been reported to underlie LAH. Recently, a deletion mutation in Lipase H (LIPH) gene, located at AH locus, has been identified in two ethnic groups of Russian population. In the present study, a four generation Pakistani family with AH phenotype has been mapped to chromosome 3q27. Sequence analysis of candidate gene LIPH revealed a novel five base pair deletion mutation (c.346-350delATATA) in exon 2 of the gene leading to frameshift and downstream premature termination codon. The mutation reported in the family, presented here, is the second mutation identified in LIPH gene. The identification of a genetic defect in LIPH suggests that this enzyme regulates hair growth.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Muhammad Salman
authors.initials: MS
authors.lastname: Chishti
authors.forename: Syed Irfan
authors.initials: SI
authors.lastname: Raza
authors.forename: Peter
authors.initials: P
authors.lastname: John
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D002893:Chromosomes, Human, Pair 3; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C504173:LIPC protein, human; D008049:Lipase