Abstract:
:Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab-Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab-Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Massé M,Martinez-Mir A,Lam H,Geraghty MT,Christiano AMdoi
10.1111/j.1365-2230.2005.01762.xkeywords:
subject
Has Abstractpub_date
2005-07-01 00:00:00pages
363-5issue
4eissn
0307-6938issn
1365-2230pii
CED1762journal_volume
30pub_type
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