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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. We previously reported that HGPPS patients from consanguineous pedigrees harbour homozygous mutations in the axon guidance molecule ROBO3. METHODS: We now report two sporadic HGPPS children of non-consanguineous parents who harbour compound heterozygous mutations in ROBO3. The mother of one of the children also had scoliosis DNA was extracted from a blood sample from each participant using a standard protocol, and the coding exons of ROBO3 were amplified and sequenced as previously described. RESULTS: Each patient harboured two unique heterozygous mutations in ROBO3, having inherited one mutation from each parent. CONCLUSIONS: HGPPS can result from compound heterozygous mutations. More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population.

Pubmed ID: 16525029

Authors

  • Chan WM
  • Traboulsi EI
  • Arthur B
  • Friedman N
  • Andrews C
  • Engle EC

Journal

Journal of medical genetics

Publication Data

March 9, 2006

Associated Grants

  • Agency: NICHD NIH HHS, Id: P30HD-18655
  • Agency: NEI NIH HHS, Id: R01-EY015298
  • Agency: NEI NIH HHS, Id: R01-EY13583

Mesh Terms

  • Child
  • Developmental Disabilities
  • Disease Progression
  • Female
  • Heterozygote Detection
  • Humans
  • Infant
  • Male
  • Mutation
  • Ocular Motility Disorders
  • Pedigree
  • Receptors, Immunologic
  • Scoliosis