ReviewMolecular genetics & genomic medicine2023
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Review in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.Orphanet journal of rare diseases · 2026Article
- 20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.Neurogenetics · 2025Review
- Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.Annals of clinical and translational neurology · 2024Article
- Bilateral Whisker Representations in the Primary Somatosensory Cortex in Robo3cKO Mice Are Reflected in the Primary Motor Cortex.Neuroscience · 2024Article
- Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.Molecular genetics & genomic medicine · 2023Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundHomozygous or compound heterozygous ROBO3 gene mutations cause horizontal gaze palsy with progressive scoliosis (HGPPS). This is an autosomal recessive disorder that is characterized by congenital absence or severe restriction of horizontal gaze and progressive scoliosis. To date, almost 100 patients with HGPPS have been reported and 55 ROBO3 mutations have been identified.
methodsWe described an HGPPS patient and performed whole-exome sequencing (WES) to identify the causative gene.
resultsWe identified a missense variant and a splice-site variant in the ROBO3 gene in the proband. Sanger sequencing of cDNA revealed the presence of an aberrant transcript with retention of 700 bp from intron 17, which was caused by a variation in the noncanonical splicing site. We identified five additional ROBO3 variants, which were likely pathogenic, and estimated the overall allele frequency in the southern Chinese population to be 9.44 × 10
conclusionThis study has broadened the mutation spectrum of the ROBO3 gene and has expanded our knowledge of variants in noncanonical splicing sites. The results could help to provide more accurate genetic counseling to affected families and prospective couples. We suggest that the ROBO3 gene should be included in the local screening strategy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.