ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
American Journal of Medical Genetics. Part A , Volume 164 - Issue 11 p. 2892- 2900
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|
|American Journal of Medical Genetics. Part A|
|Organisation||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