期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 11, 页码 2892-2900出版社
WILEY
DOI: 10.1002/ajmg.a.36709
关键词
hypomyelination; developmental delay; intellectual disability; Cockayne syndrome group B; deafness; vision loss
资金
- National Human Genome Research Institute (NIH, Bethesda, Maryland)
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.
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