title: Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.
abstract: 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.
authors.affiliation: Department of Dermatology, St. Lukes-Roosevelt Hospital Center, New York, New York 10032, USA.
authors.forename: N
authors.initials: N
authors.lastname: Scheinfeld
authors.forename: G
authors.initials: G
authors.lastname: Hu
authors.forename: M
authors.initials: M
authors.lastname: Gill
authors.forename: C
authors.initials: C
authors.lastname: Austin
authors.forename: J T
authors.initials: JT
authors.lastname: Celebi
mesh_terms: D000368:Aged; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D018280:Carcinoma, Skin Appendage / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D000074749:Deubiquitinating Enzyme CYLD; D005148:Facial Dermatoses / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012536:Scalp Dermatoses / Q000235:genetics; D017444:Skin Diseases, Papulosquamous / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD