Summary
Background
Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively
inherited form of irreversible alopecia characterized by papular lesions of keratin-filled
cysts on various regions of the body. Males and females are equally affected and present
with a distinct pattern of total hair loss on scalp, axilla and body. It begins shortly
after birth with the development of hair loss, and patients are normally devoid of
eyelashes and eyebrows. Mutations in the hairless (HR) gene have been previously shown to be responsible for APL.
Objective
In this study, we studied the molecular basis of APL in three unrelated families of
Pakistani origin.
Method
Molecular analysis of the HR genes was performed on genomic DNA from probands and family members.
Results
DNA sequencing of the HR gene in family A revealed a novel homozygous 2 bp deletion in exon 6 leading to a frameshift and a downstream premature termination
codon in exon 8 (1782-83delAG). In family B, we identified a novel homozygous deletion
of a G nucleotide at the exon 15–intron 15 boundary, termed 3097delG. Family C carries
a previously reported missense mutation consisting of an A-to-G transition at nucleotide
276 resulting in the mutation N970S in exon 14.
Conclusion
Two mutations identified in this study are novel mutations in the HR gene and extend the body of evidence implicating the hairless gene family in the
pathogenesis of human skin disorders. The one previously reported mutation suggests
it may represent a recurrent mutation, or alternatively, an allele that is widely
dispersed around the world.
Keywords
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Article info
Publication history
Published online: July 12, 2010
Accepted:
October 29,
2007
Received in revised form:
October 25,
2007
Received:
August 13,
2007
Identification
Copyright
© 2007 Published by Elsevier Inc.
