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.

Cockayne syndrome group B, Deafness, Developmental delay, Hypomyelination, Intellectual disability, Vision loss
dx.doi.org/10.1002/ajmg.a.36709, hdl.handle.net/1765/90118
American Journal of Medical Genetics. Part A
Department of Molecular Genetics

Shehata, L, Simeonov, D.R, Raams, A, Wolfe, L, Vanderver, A, Li, X, … Gahl, W.A. (2014). ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. American Journal of Medical Genetics. Part A, 164(11), 2892–2900. doi:10.1002/ajmg.a.36709