ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Issue 11 (22nd September 2014)

• Record Type: Journal Article
• Authors: Shehata, Laila; Simeonov, Dimitre R.; Raams, Anja; Wolfe, Lynne; Vanderver, Adeline; Li, Xueli; Huang, Yan; Garner, Shannon; Boerkoel, Cornelius F.; Thurm, Audrey; Herman, Gail E.; Tifft, Cynthia J.; He, Miao; Jaspers, Nicolaas G.J.; Gahl, William A.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 11(2014.)
• Page Start: 2892
• Page End: 2900
• Publication Date: 2014-09-22
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36709
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36709-sec-0001" sec-type="section"> <p>Mutations in <italic>ERCC6</italic> are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. We describe siblings with biallelic <italic>ERCC6</italic> mutations (NM_000124.2:c. [543 + 4delA];[2008C &gt; 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 <italic>ERCC6</italic> mutations. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>