Searching accross hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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 RIS Download

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

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: NEI NIH HHS, Id: R01 EY015298
  • Agency: NEI NIH HHS, Id: R01-EY015298
  • Agency: NEI NIH HHS, Id: R01 EY013583
  • Agency: NICHD NIH HHS, Id: P30 HD018655
  • Agency: NICHD NIH HHS, Id: P30HD-18655
  • Agency: NEI NIH HHS, Id: R01-EY13583

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

We have not found any resources mentioned in this publication.