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Diverse phenotype of Brooke–Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene
Author(s) -
Zhang Guolong,
Huang Yijin,
Yan Kailin,
Li Wei,
Fan Xing,
Liang Yanhua,
Sun Liangdan,
Li Hui,
Zhang Shumei,
Gao Min,
Du Wenhui,
Yang Sen,
Liu Jianjun,
Zhang Xuejun
Publication year - 2006
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2006.00501.x
Subject(s) - nonsense mutation , proband , trichoepithelioma , phenotype , genetics , biology , cylindroma , mutation , gene , nonsense , genodermatosis , cancer research , pathology , medicine , missense mutation , basal cell , basal cell carcinoma
Brooke–Spiegler syndrome (BSS) is an autosomal dominant disease characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. The disease gene was mapped to 16q12‐13, and mutations in the CYLD gene were identified in families with BSS. In the present report, we describe a large consanguineous Chinese family with BSS showing an intra‐family phenotypic variability. Clinically, some affected individuals only revealed discrete small skin‐coloured tumors whereas the proband showed an expansion of multiple large tumors on the back of nose and numerous dome‐shaped papules on her scalp. Histologically, both trichoepitheliomas and cylindromas were found in the affected individuals. By sequence analysis, we identified a recurrent mutation 2272C>T (R758X) of the CYLD gene in the affected individuals of this family, which was previously identified in other ethnic families with familial cylindromatosis. Our result provided additional information for phenotype–genotype correlation in BSS.