TY - CHAP M1 - Book, Section TI - Familial Cylindromatosis A1 - Stratton, Michael R. A1 - Bignell, Graham R. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. PY - 2019 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - Cylindromas are benign neoplasms of the skin that originate from skin appendage structures. Sporadic cylindromas are usually small, solitary tumors with few complications. Familial cylindromatosis is a rare, autosomal dominant genetic predisposition to the development of multiple cylindromas. This can be a severely disfiguring condition associated with considerable morbidity.There is a single familial cylindromatosis susceptibility gene (CYLD) located on chromosome 16q12. Loss of heterozygosity on chromosome 16q in both familial and sporadic cylindromas indicates that CYLD is a tumor-suppressor gene/recessive oncogene. Germ line mutations of CYLD are found in cylindromatosis families and somatic mutations in sporadic and familial cylindromas. However, no somatic mutations have been found in other types of neoplasm. All currently identified mutations are predicted to cause truncation or absence of the encoded protein.CYLD encodes a 956-amino acid protein. It includes three Cytoskeletal-Associated Protein-Glycine conserved (CAP-GLY) domains that are found in proteins coordinating the attachment of organelles to microtubules. It also has sequence homology to the catalytic domain of ubiquitin C-terminal hydrolases, a family of enzymes that act to deubiquitinate proteins. However, the critical biological activities that are subverted by the CYLD mutations that result in cylindromatosis have yet to be elucidated. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - ommbid.mhmedical.com/content.aspx?aid=1181416226 ER -