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Identification of a recurrent mutation in the CYLD gene in Brooke–Spiegler syndrome
Author(s) -
Scheinfeld N.,
Hu G.,
Gill M.,
Austin C.,
Çelebi J. T.
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.1365-2230.2003.01344.x
Subject(s) - frameshift mutation , genetics , mutation , phenotype , gene , biology , genotype , disease , medicine , pathology
Summary Brooke–Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to neoplasms of the skin appendages. The disease has been mapped to 16q, and mutations in the CYLD gene have been identified in families with this disorder. We describe an individual with BSS exhibiting clinical heterogeneity in which a heterozygous frameshift mutation in CYLD , 2172delA, has been identified. These findings extend the body of evidence that mutations in CYLD are involved in Brooke‐Spiegler syndrome and provide additional information for phenotype–genotype correlation.