Ehab Y Harahsheh, Lauren E Moxley, Matu Al-Amin, Sonia Sabrowsky, Adnan Deniz, Mayowa Osundiji
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引用次数: 0
Abstract
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.
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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