ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

ABSTRACT: Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c. [543+4delA];[2008C>T]) and brain hypomyelination, microcephaly, cognitive decline, and skill regression but without photosensitivity or progeria. DNA repair assays on cultured skin fibroblasts confirmed a defect of transcription-coupled nucleotide excision repair and increased ultraviolet light sensitivity. This report expands the disease spectrum associated with ERCC6 mutations.

SUBMITTER: Shehata L 

PROVIDER: S-EPMC4205164 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature