- Record: found
- Abstract: found
- Article: not found
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
Laila Shehata
1 ,
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
Nov 2014
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
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.