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

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

Neurology Asia, cilt.27, sa.4, ss.1047-1051, 2022 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.54029/2022tcw
  • Dergi Adı: Neurology Asia
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Sayfa Sayıları: ss.1047-1051
  • Anahtar Kelimeler: ROBO3, genetic, gaze palsy, progressive scoliosis, children
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

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.