Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
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.
Zhang
Guolong
G
Institute of Dermatology & Department of Dermatology at First Hospital, Anhui Medical University, Hefei, China.
Huang
Yijin
Y
Yan
Kailin
K
Li
Wei
W
Fan
Xing
X
Liang
Yanhua
Y
Sun
Liangdan
L
Li
Hui
H
Zhang
Shumei
S
Gao
Min
M
Du
Wenhui
W
Yang
Sen
S
Liu
Jianjun
J
Zhang
Xuejun
X
D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics* / Q000473:pathology; D018280:Carcinoma, Skin Appendage / Q000235:genetics* / Q000473:pathology; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD