title: Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.
abstract: Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease-causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the LIPH gene located on chromosome 3q27.2. Subsequently, sequencing LIPH identified a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Sabba
authors.initials: S
authors.lastname: Mehmood
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Abid
authors.initials: A
authors.lastname: Jan
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Dost
authors.initials: D
authors.lastname: Muhammad
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Farooq
authors.initials: F
authors.lastname: Ahmad
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.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Younus
authors.affiliation: Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.affiliation: Institute of Biochemistry, University of Baluchistan, Quetta, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ayub
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000473:pathology*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D008049:Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C504173:LIPC protein, human; D008049:Lipase
keywords: LIPH gene; autosomal recessive hypotrichosis; novel and recurrent mutation; woolly hair