Two siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study

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dc.contributor.authorOrak, SA
dc.contributor.authorErdogan, M
dc.contributor.authorYilmaz, C
dc.contributor.authorAtasever, AK
dc.contributor.authorKubur, CC
dc.contributor.authorPolat, M
dc.date.accessioned2024-07-18T11:49:33Z
dc.date.available2024-07-18T11:49:33Z
dc.description.abstractHorizontal 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.
dc.identifier.issn1823-6138
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/4103
dc.language.isoEnglish
dc.publisherASEAN NEUROLOGICAL ASSOC
dc.subjectSCOLIOSIS
dc.titleTwo siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study
dc.typeArticle

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