title: Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
abstract: Hypotrichosis is a condition of abnormal hair pattern characterized by sparse to absent hair on different parts of the body, including the scalp. The condition is often characterized by tightly curled woolly hairs, discoloration of hair, and development of multiple keratin filled cysts or papules on the body. Sequence analysis of the lipase H (LIPH) gene, mapped on chromosome 3q27.3, led to the identification of a novel frameshift deletion variant (c.932delC, p.Pro311Leufs*3) in one family and previously reported 2-bp deletion (c.659_660delTA) in five other families, inherited hypotrichosis, and woolly hair in an autosomal recessive pattern. The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
authors.forename: Sabba
authors.initials: S
authors.lastname: Mehmood
authors.affiliation: Center for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
authors.forename: Sayed Hajan
authors.initials: SH
authors.lastname: Shah
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, 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, Islamabad, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Younus
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
authors.forename: Farooq
authors.initials: F
authors.lastname: Ahmad
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, Islamabad, Pakistan.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006197:Hair; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: C504173:LIPC protein, human; D008049:Lipase