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New mutation in the CYLD gene within a family with Brooke‐Spiegler syndrome
Author(s) -
Scholz Ina M.,
Nümann Astrid,
Froster Ursula G.,
Helmbold Peter,
Enk Alexander H.,
Näher Helmut
Publication year - 2010
Publication title -
jddg: journal der deutschen dermatologischen gesellschaft
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 60
eISSN - 1610-0387
pISSN - 1610-0379
DOI - 10.1111/j.1610-0387.2009.07156.x
Subject(s) - frameshift mutation , exon , genetics , mutation , gene , phenotype , pathogenesis , biology , gene mutation , genetic testing , malignant transformation , chromosome , medicine , bioinformatics , pathology
Summary Brooke‐Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12‐q13. We describe a family, in which we performed a molecular‐genetic examination and found a new mutation in exon 19 in the CYLD gene leading to a frameshift. It is important to be aware of this syndrome and its pathogenesis as its phenotypic features can vary so that apparently different diseases are caused by the same genetic defect. In addition, there may be malignant transformation of the generally benign tumors, so that a timely diagnosis is essential for appropriate monitoring and therapy.