WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
详细信息 查看全文
- 作者：Sabine Hoffjana ; b ; sabine.hoffjan@rub.de" class="auth_mail" title="E-mail the corresponding author ; Aysegü ; l Ibislera ; b ; Anne Tschentschera ; Gabriele Dekomiena ; b ; Carla Bidinostc ; Alberto L. Rosac
- 关键词：WDR45 ; NBIA ; BPAN ; Rett syndrome ; Intellectual disability
- 刊名：Molecular and Cellular Probes
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：30
- 期：1
- 页码：44-49
- 全文大小：999 K
文摘
- •
A novel splice-site mutation in WDR45 was discovered in a pediatric patient with Rett-like syndrome.
- •
Current knowledge about the mutational and clinical spectrum for WDR45 mutations is reviewed.
- •
Clinical symptoms ranged from mild cognitive delay to early-onset epileptic encephalopathy.
- •
Analysis of WDR45 may be considered in patients with Rett-like phenotypes and/or developmental delay regardless of severity.