title: Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.
abstract: Localized autosomal recessive hypotrichosis (LAH) is rare disorder affecting the scalp, trunk and extremities and largely sparing the facial, pubic and axillary hair. Mutations in desmoglein 4 (DSG4) gene are responsible for LAH which maps to human chromosome 18q12. In this study a recurrent intragenic deletion mutation (Ex5_8del) was identified in DSG4 gene in two Pakistani families of Balochi and Sindhi origins. Manifestation of identical intragenic deletion mutation in eight Pakistani families, six reported earlier and two here, is exceptionally evocative of the dispersion of ancestral chromosome in different ethnic groups through common ancestors.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Peter
authors.initials: P
authors.lastname: John
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Muhammad
authors.initials: M
authors.lastname: Arshad Rafiq
authors.forename: Muhammad
authors.initials: M
authors.lastname: Amin-Ud-Din
authors.forename: Dost
authors.initials: D
authors.lastname: Muhammad
authors.forename: Ishrat
authors.initials: I
authors.lastname: Waheed
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D001483:Base Sequence; D051182:Desmogleins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C473409:DSG4 protein, human; D051182:Desmogleins