ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Year: 2014
Type: article
Study design: Case Report
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.
DOI: 10.1002/ajmg.a.36709
Institutions: National Institutes of Health, National Human Genome Research Institute, Office of the Director, NIH Common Fund, Erasmus MC, Children's National, Children's Hospital of Philadelphia, University of Pennsylvania, Nationwide Children's Hospital, The Ohio State University, National Institute of Mental Health
Language: English
Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Award: Human Biochemical Genetics
OpenAlex ID: W2136630347