ERCC6 Dysfunction Presenting as Progressive Neurological Decline With Brain Hypomyelination

作者：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

来源：American Journal of Medical Genetics, Part A, 2014, 164(11): 2892-2900.

DOI：10.1002/ajmg.a.36709

• hypomyelination
• developmental delay
• intellectual disability
• Cockayne syndrome group B
• deafness
• vision loss

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.

• 出版日期2014-11
• 单位NIH