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.
- horizontal gaze palsy
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This work was supported by NIH-R01-EY015298 and NIH-R01-EY13583 to ECE, and NIH P30HD-18655 (Children’s Hospital Mental Retardation and Developmental Disabilities Center)
Competing interests: none declared
Consent was received for the publication of these patient details
Ethics approval: all necessary ethics committee approval was secured for the study reported, as stated in the article
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