DDX3X 综合征:从临床表型到生物学见解。

IF 4.2 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Alexa von Mueffling, Marta Garcia-Forn, Silvia De Rubeis
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引用次数: 0

摘要

DDX3X 综合征是一种神经发育障碍性疾病,占智力残疾(ID)病例的 3%,主要影响女性。被诊断患有 DDX3X 综合征的患者还可能伴有行为障碍、运动迟缓和运动障碍、癫痫和先天性畸形。DDX3X综合征是由X连锁基因DDX3X突变引起的,该基因编码一种DEAD-box RNA螺旋酶,在RNA代谢(包括mRNA翻译)中发挥着关键作用。动物模型的新发现揭示了 DDX3X 在神经元分化和发育(尤其是在新皮层)中的基本作用。在此,我们回顾了目前有关 DDX3X 综合征的遗传和神经生物学机制及其与临床表型之间关系的知识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

DDX3X syndrome: From clinical phenotypes to biological insights

DDX3X syndrome: From clinical phenotypes to biological insights

DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X syndrome can also present with behavioral challenges, motor delays and movement disorders, epilepsy, and congenital malformations. DDX3X syndrome is caused by mutations in the X-linked gene DDX3X, which encodes a DEAD-box RNA helicase with critical roles in RNA metabolism, including mRNA translation. Emerging discoveries from animal models are unveiling a fundamental role of DDX3X in neuronal differentiation and development, especially in the neocortex. Here, we review the current knowledge of genetic and neurobiological mechanisms underlying DDX3X syndrome and their relationship with clinical phenotypes.

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来源期刊
Journal of Neurochemistry
Journal of Neurochemistry 医学-神经科学
CiteScore
9.30
自引率
2.10%
发文量
181
审稿时长
2.2 months
期刊介绍: Journal of Neurochemistry focuses on molecular, cellular and biochemical aspects of the nervous system, the pathogenesis of neurological disorders and the development of disease specific biomarkers. It is devoted to the prompt publication of original findings of the highest scientific priority and value that provide novel mechanistic insights, represent a clear advance over previous studies and have the potential to generate exciting future research.
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