Two siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study
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Published:2022-12
Issue:4
Volume:27
Page:1047-1051
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ISSN:1823-6138
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Container-title:Neurology Asia
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language:
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Short-container-title:NeuroAsia
Author:
Orak Sibgatullah Ali,Erdogan Mustafa,Yilmaz Celil,Atasever Asli Kubra,Cerci Kubur Cisil,Polat Muzaffer
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.
Publisher
ASEAN Neurological Association
Subject
Neurology (clinical),Neurology