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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity
Open accessAbstract
Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five different mutations (four truncating and one missense) in RAB23, which encodes a member of the RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins and acts as a negative regulator of hedgehog (HH) signaling. In 10 patients, the disease was caused by homozygosity for the same nonsense mutation, L145X, that resides on a common haplotype, indicative of a founder effect in patients of northern European descent. Surprisingly, nonsense mutations of Rab23 in open brain mice cause recessive embryonic lethality with neural-tube defects, suggesting a species difference in the requirement for RAB23 during early development. The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity.
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“These mutations demonstrate pathogenic roles for steroid metabolism and hedgehog (or possibly Wnt) signalling in cranial suture development, both of which are at present poorly understood.”
From Craniosynostosis (2011) · cites this paper as [36]
In the citing paper
“Whereas most genetically determined craniosynostosis is characterised by dominant inheritance, Antley-Bixler syndrome (features include disordered sex development and radio-humeral synostosis; mutation in POR encoding cytochrome P450 oxidoreductase) 35 and Carpenter syndrome (with polysyndactyly; mutation in RAB23 encoding RAB23, member of RAS oncogene family) 36 are recessive disorders.”
From Craniosynostosis (2011) · cites this paper as [36]
In the citing paper
“Additional convergence is seen in the Hedgehog pathway, involving ALX4, IHH, and RAB23 [46, 72, 77], and in the RAS/MAPK cascade, given the association of sCS with RASopathies and variants in BRAF, PTPN11, and MAP4K4 [61, 112, 122].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [72]
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Metadata
- Authors
- Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., Helene Ørstavik, K., Sweeney, E., Wall, S. A., Marsh, J. L., Nürnberg, P., Rita Passos-Bueno, M., & Wilkie, A. O. M.
- Affiliations
- Guy's Hospital (GB)
- University of Cologne (DE)
- Universidade de São Paulo (BR)
- Universidade Federal de São Paulo (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- University of Manchester (GB)
- Erasmus MC (NL)
- Birmingham Women's Hospital (GB)
- Liverpool Women's Hospital (GB)
- National Health Service (GB)
- Corresponding author
- Wilkie, Andrew O.M.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-06
- Volume
- 80
- Issue
- 6
- Pages
- 1162-1170
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1867103
- OpenAlex
- W2074166336
- Cited by
- 276
- References
- 39
- Citations by year
- 2026: 10 · 2025: 10 · 2024: 13 · 2023: 13 · 2022: 12 · 2021: 15 · 2020: 13 · 2019: 8 · 2018: 14 · 2017: 18 · 2016: 11 · 2015: 13 · 2014: 18 · 2013: 14 · 2012: 20
- FWCI
- 9.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Americanae (AECID Library) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Surgery › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Carpenter syndrome, Rab23, Hedgehog signaling, craniosynostosis, obesity, founder effect, homozygosity mapping, nonsense mutation, neural tube defects, autosomal recessive inheritance, polysyndactyly, cardiac defects, vesicle trafficking
- MeSH terms
- Acrocephalosyndactylia, Chromosome Mapping, Chromosomes, Human, Pair 6, Cranial Sutures, Genes, Recessive, Humans, Genetic Linkage, Mutation, Obesity, Syndrome, Signal Transduction, rab GTP-Binding Proteins, Hedgehog Proteins
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