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Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
Author(s) -
Paradisi M.,
Chuang G. S.,
Angelo C.,
Pedicelli C.,
MartinezMir A.,
Christiano A. M.
Publication year - 2003
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.1365-2230.2003.01333.x
Subject(s) - zinc finger , hairless , missense mutation , exon , biology , genetics , hair loss , gene , ring finger domain , zinc finger transcription factor , mutation , transcription factor
Summary Atrichia with papular lesions (APL) is a rare autosomal recessive disorder resulting in complete and irreversible hair loss shortly after birth. Affected individuals also develop papular lesions of keratin‐filled follicular cysts over extensive areas of the body. Mutations in the hairless gene, a putative single zinc‐finger transcription factor protein, have been implicated in the pathogenesis of APL. In this report, we describe a novel missense mutation, E583V, in the hairless gene in an Italian family affected with APL. The mutation resides between the LXXLL motif found in TRIPs (thyroid hormone receptor interacting proteins) in exon 5 and the six‐cysteine zinc‐finger motif in exon 6. The amino acid sequence neighbouring the LXXLL motif and zinc‐finger domain is highly conserved in human, monkey, rat, and mouse hairless proteins. Our finding extends the body of evidence that supports the importance of the zinc‐finger and LXXLL domains in the function of the hairless protein. Moreover, we continue to find small APL families without consanguinity from around the world.