Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

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 kera...

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Bibliographic Details
Published in:Journal of dermatology 2011-08, Vol.38 (8), p.755-760
Main Authors: AZEEM, Zahid, WASIF, Naveed, BASIT, Sulman, RAZAK, Suhail, WAHEED, Raja Amjad, ISLAM, Adeel, AYUB, Muhammad, KAFAITULLAH,  , KAMRAN-UL-HASSAN NAQVI, Syed, ALI, Ghazanfar, AHMAD, Wasim
Format: Article
Language:English
Subjects:
Adult
Alopecia - congenital
Alopecia - genetics
Alopecia - pathology
atrichia with papular lesions
Base Sequence
Chromosomes, Human, Pair 8 - genetics
Codon, Nonsense
Consanguinity
DNA Mutational Analysis
Female
hairless gene
Humans
Male
Mutation
Mutation, Missense
novel mutations
Pakistan
Pedigree
Transcription Factors - genetics
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Summary: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.
ISSN:0385-2407
1346-8138
DOI:10.1111/j.1346-8138.2010.01151.x