ERCC6 Dysfunction Presenting as Progressive Neurological Decline With Brain Hypomyelination

L Shehata, DR Simeonov, Anja Raams, L Wolfe, A Vanderver, XL Li, Yadi Huang, S Garner, CF Boerkoel, A Thurm, GE Herman, CJ Tifft, M He, Koos Jaspers, WA Gahl

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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. (c) 2014 Wiley Periodicals, Inc.
Original languageUndefined/Unknown
Pages (from-to)2892-2900
Number of pages9
JournalAmerican Journal of Medical Genetics Part A
Volume164A
Issue number11
DOIs
Publication statusPublished - 2014

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