Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.
BACKGROUND
Atrichia with papular lesions (APL) is a rare autosomal recessive condition resulting from mutations in the hairless (HR) gene.


OBJECTIVE
In the present study, we investigated the molecular basis of APL in a non-consanguineous Korean family.


METHODS
Direct automated DNA sequencing of the HR gene and restriction digestion analysis were used to identify and confirm the mutation in our proband.


RESULTS
Sequencing of the HR gene revealed two novel nonsense mutations in exons 2 and 4 which were subsequently confirmed via enzymatic restriction. No mutations have previously been detected in this population.


CONCLUSIONS
The growing number of heterozygous mutations in non-consanguineous pedigrees supports the hypothesis that APL is more common than previously expected.
Ashoor
Ghalia G
GG
Genetic Skin Disease Group, St. John's Institute of Dermatology, The Guy's King's College and St. Thomas' Hospital Medical School, London, UK.
Greenstein
Robert M
RM
Lam
Hamut
H
Martinez-Mir
Amalia
A
Zlotogorski
Abraham
A
Christiano
Angela M
AM
D000505:Alopecia / Q000235:genetics*; D018389:Codon, Nonsense; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D018389:Codon, Nonsense; C490267:HR protein, human; D014157:Transcription Factors