期刊
JOURNAL OF GENETICS
卷 99, 期 1, 页码 -出版社
INDIAN ACAD SCIENCES
DOI: 10.1007/s12041-019-1165-3
关键词
PURA gene; whole-exome sequence; brainstem; hypotonia; developmental delay; epilepsy
资金
- Spanish Instituto de Salud Carlos III (ISCIII)
- European Regional Development Fund (ERDF) [PI17/00487]
- Instituto de Investigacion Hospital 12 de Octubre (i+12)
- ISCIII
- ERDF [PI17/00487]
We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both genetic and phenotypic spectrum associated with PURA gene mutations.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据