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

Creative Commons License

Orak S. A., ERDOĞAN M., Yilmaz C., Atasever A. K., Kubur C. C., POLAT M.

Neurology Asia, vol.27, no.4, pp.1047-1051, 2022 (SCI-Expanded, Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.54029/2022tcw
  • Journal Name: Neurology Asia
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Page Numbers: pp.1047-1051
  • Keywords: ROBO3, genetic, gaze palsy, progressive scoliosis, children
  • Open Archive Collection: AVESIS Open Access Collection
  • Manisa Celal Bayar University Affiliated: Yes

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.