与ROBO3相关的水平凝视麻痹并伴有进行性脊柱侧弯20年:小型回顾。

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Ehab Y Harahsheh, Lauren E Moxley, Matu Al-Amin, Sonia Sabrowsky, Adnan Deniz, Mayowa Osundiji
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引用次数: 0

摘要

ROBO3是进化保守的引导受体Roundabout (ROBO)基因家族的成员,在中枢神经系统中线的轴突交叉中起重要作用。2004年,ROBO3的致病变异首次与水平凝视性麻痹伴进行性脊柱侧凸1型[HGPPS1 (OMIM # 607313)]有关,HGPPS1是一种常染色体隐性遗传病,其特征是皮质脊髓束和体感觉轴突束在髓质中无法相互交流。迄今为止,已在近100例患者中描述了60多种与HGPPS1相关的ROBO3致病性(或可能致病性)变异。随着20年的里程碑,这篇小型综述强调了不断增长的机会,以提高目前对HGPPS1表型和ROBO3基因型谱的理解。对转化研究的日益增长的需求,可以为改善robo3相关疾病的临床管理铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.

ROBO3 is a member of the Roundabout (ROBO) gene family of evolutionarily conserved guidance receptors, which plays crucial roles in axon crossing of the CNS midline. In 2004, pathogenic variants in ROBO3 were first linked to Horizontal Gaze Palsy with Progressive Scoliosis type 1 [HGPPS1 (OMIM # 607313)], an autosomal recessive disorder that is characterized by failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. Hitherto, over 60 ROBO3 pathogenic (or likely pathogenic) variants associated with HGPPS1 have been described in almost 100 patients. With the 20-year milestone, this minireview underscores the growing opportunities to improve the current understanding of the spectrum of HGPPS1 phenotype and ROBO3 genotypes. The increasing need for translational studies that can pave the way for improved clinical management of ROBO3-related disorders is also highlighted.

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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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