ArticleMolecular syndromology2013
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 21 citations in OpenAlex.
- RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.PLoS genetics · 2025Article
- The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.European journal of human genetics : EJHG · 2024Article
- Complex craniosynostosis in the context of Carpenter's syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Cilia signaling and obesity.Seminars in cell & developmental biology · 2021Review
- Rab GTPases in cilium formation and function.Small GTPases · 2018Review
- Large-scale computational drug repositioning to find treatments for rare diseases.NPJ systems biology and applications · 2018Article
- Rab23's genetic structure, function and related diseases: a review.Bioscience reports · 2017Review
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. Rab proteins are known to be involved in the regulation of cellular trafficking and signal transduction. Currently, only few mutations in RAB23 have been reported in patients with Carpenter syndrome. In this paper, we report the clinical features, molecular and functional analysis of 2 children from an Emirati consanguineous family with this syndrome. The affected children exhibit the typical features including craniosynostosis, typical facial appearance, polysyndactyly, and obesity. Molecular analysis of the RAB23 gene revealed a homozygous mutation affecting the first nucleotide of the acceptor splice site of exon 5 (c.482-1G>A). This mutation affects the authentic mRNA splicing and activates a cryptic acceptor site within exon 5. Thus, the erroneous splicing results in an eight nucleotide deletion, followed by a frameshift and premature termination codon at position 161 (p.V161fsX3). Due to the loss of the C-terminally prenylatable cysteine residue, the truncated protein will probably fail to associate with the target cellular membranes due to the absence of the necessary lipid modification. The p.V161fsX3 extends the spectrum of RAB23 mutations and points to the crucial role of prenylation in the pathogenesis of Carpenter syndrome within this family.
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