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
NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.
Am J Med Genet A. 2014 Nov;164A(11):2892-900. doi: 10.1002/ajmg.a.36709. Epub 2014 Sep 22.
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.
ERCC6基因的突变与生长发育迟缓、智力残疾、神经功能障碍与衰退、早衰以及光敏性有关。我们描述了具有双等位基因ERCC6突变（NM_000124.2:c.[543+4delA];[2008C>T]）的同胞，他们存在脑白质发育不全、小头畸形、认知衰退和技能倒退，但无光敏性或早衰症状。对培养的皮肤成纤维细胞进行的DNA修复检测证实了转录偶联核苷酸切除修复缺陷以及紫外线敏感性增加。本报告扩展了与ERCC6突变相关的疾病谱。
