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.

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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