title: Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
abstract: Congenital atrichia with papular lesions (APL; Mendelian Inheritance in Man no. 209500) is a rare form of irreversible alopecia that follows an autosomal recessive mode of inheritance. Patients with this form of alopecia show hair loss soon after birth with the development of papular lesions of keratin-filled cysts over the body. Several studies have reported sequence variants in the human hairless (HR) gene as the underlying cause of this disorder. In the present study, we have reported four consanguineous families showing features of APL. Genotyping using microsatellite markers showed mapping of all four families to the hairless (HR) gene on chromosome 8p21.1. Further, DNA sequence analysis of the HR gene revealed three novel mutations including two nonsense (p.Cys690X, p.Arg819X) and a missense (p.Pro1157Arg) in the four families.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Azeem
authors.forename: Naveed
authors.initials: N
authors.lastname: Wasif
authors.forename: Sulman
authors.initials: S
authors.lastname: Basit
authors.forename: Suhail
authors.initials: S
authors.lastname: Razak
authors.forename: Raja Amjad
authors.initials: RA
authors.lastname: Waheed
authors.forename: Adeel
authors.initials: A
authors.lastname: Islam
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ayub
authors.lastname: Kafaitullah
authors.forename: Syed
authors.initials: S
authors.lastname: Kamran-ul-hassan Naqvi
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000328:Adult; D000505:Alopecia / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010154:Pakistan; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C490267:HR protein, human; D014157:Transcription Factors