ArticleAmerican journal of human genetics2009
Identification of CANT1 mutations in Desbuquois dysplasia.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 104 citations in OpenAlex.
- Proteoglycan Dynamics and Bone Quality: Molecular Regulation to Age-Related Fragility.Biomolecules · 2026Review
- Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.Molecular syndromology · 2026Review
- Dysregulation of the Cant1/β-Catenin/TCF4-CHSY1 Axis Underpins Impaired ECM Biosynthesis in Skeletal Disorders.Research (Washington, D.C.) · 2026Article
- CANT1 Is Involved in Collagen Fibrogenesis in Tendons by Regulating the Synthesis of Dermatan/Chondroitin Sulfate Attached to the Decorin Core Protein.International journal of molecular sciences · 2025Article
- Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.Essays in biochemistry · 2024Review
- Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation.Molecular syndromology · 2024Article
- Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.International journal of molecular sciences · 2024Review
- Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.Biomolecules · 2024Article
- Circ_0001715 accelerated lung adenocarcinoma process by the miR-1322/CANT1 axis.Diagnostic pathology · 2023Article
- Deficiency ofInternational journal of molecular sciences · 2023Article
- A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis.Journal of pediatric genetics · 2022Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report.BMC pediatrics · 2022Article
- Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance.Journal of cell science · 2022Review
- Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis.International journal of molecular sciences · 2021Article
- First Report of Two Egyptian Patients with Desbuquois Dysplasia due to HomozygousMolecular syndromology · 2021Article
- Radiographic findings of Desbuquois dysplasia.BJR case reports · 2021Article
- Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.Frontiers in genetics · 2021Review
- Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.Frontiers in genetics · 2021Review
- An Overview ofFrontiers in cell and developmental biology · 2021Review
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Authors and funding
21 authors at 12 institutions in 11 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5' UTR and exon 1, p.P245RfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca2+ release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process.
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