Two siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study
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Date
2022
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Abstract
Horizontal gaze palsy along with progressive scoliosis (HGPPS) is rare and autosomal recessive disease related to the mutations in the ROBO3 gene located on chromosome 11q23-25. We present here two siblings from parents of consanguineous marriage, who were diagnosed with bilateral horizontal gaze restriction and scoliosis associated with homozygous mutation within ROBO3 gene and at the same time having neuroimaging findings. With HGPSS’s typical findings, we detected a homozygous c.1366G> T (p.Gly456Ter) variant in the ROBO3 gene in our patients. HGPPS should be confirmed by ROBO3 gene analysis, and the brain MRI may be the first diagnostic technique. © 2022, ASEAN Neurological Association. All rights reserved.
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Keywords
roundabout receptor , Article , best corrected visual acuity , case report , child , childhood , chromosome 11q , clinical article , consanguineous marriage , female , gaze paralysis , gene , gene mutation , genetic variability , genetics , horizontal gaze palsy along with progressive scoliosis , human , male , medulla oblongata , neuroimaging , nuclear magnetic resonance imaging , nystagmus , preschool child , ROBO3 gene , scoliosis , sibling , strabismus , T1 weighted imaging , thoracolumbar scoliosis , torticollis , visual acuity , visual field