Premium
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Author(s) -
AZEEM Zahid,
WASIF Naveed,
BASIT Sulman,
RAZAK Suhail,
WAHEED Raja Amjad,
ISLAM Adeel,
AYUB Muhammad,
KAFAITULLAH ,
KAMRANULHASSAN NAQVI Syed,
ALI Ghazanfar,
AHMAD Wasim
Publication year - 2011
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2010.01151.x
Subject(s) - hairless , genetics , missense mutation , biology , alopecia universalis , genotyping , omim : online mendelian inheritance in man , gene , nonsense mutation , mendelian inheritance , hair loss , mutation , genotype , phenotype
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.