A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

ABSTRACT:

Background

CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) gene have been reported in CCS and most of them are frameshift mutations or small alterations.

Methods

We identified a large, three-generation Chinese family with CCS, which consisted of 18 living family members, including six affected individuals. To explore the molecular biology of this family, we carried out targeted next-generation sequencing and Affymetrix CytoScan HD SNP array to analyze the mutation in the CYLD gene.

Results

A novel large deletion mutation, NC_000016.9:g.(5082

SUBMITTER: Zhu R 

PROVIDER: S-EPMC7549610 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature