| Literature DB >> 25251875 |
Laila Shehata1, Dimitre R Simeonov, Anja Raams, Lynne Wolfe, Adeline Vanderver, Xueli Li, Yan Huang, Shannon Garner, Cornelius F Boerkoel, Audrey Thurm, Gail E Herman, Cynthia J Tifft, Miao He, Nicolaas G J Jaspers, William A Gahl.
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.Entities:
Keywords: Cockayne syndrome group B; deafness; developmental delay; hypomyelination; intellectual disability; vision loss
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Year: 2014 PMID： 25251875 PMCID： PMC4205164 DOI： 10.1002/ajmg.a.36709
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802