ArticleScientific reports2013
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
Article in Scientific reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 50 citations in OpenAlex.
- Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.Bone & joint research · 2025Article
- A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas.Genes · 2024Article
- Cases report: Mosaic structural variants of theFrontiers in genetics · 2024Article
- The Missing Piece of the Puzzle: Unveiling the Role ofHuman mutation · 2024Article
- Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.Turkish archives of pediatrics · 2023Article
- Heparan sulfate proteoglycans in cancer: Pathogenesis and therapeutic potential.Advances in cancer research · 2023Article
- Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.Medicina (Kaunas, Lithuania) · 2022Article
- Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Genes · 2022Article
- Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2022Article
- A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.Journal of clinical medicine · 2022Article
- Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).American journal of translational research · 2022Article
- Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Orphanet journal of rare diseases · 2021Article
- Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis ofOncology letters · 2021Article
- Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.Frontiers in genetics · 2021Review
- An analysis of osteoporosis in patients with hereditary multiple exostoses.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- A mutation inBone & joint research · 2020Article
- Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.Osteoarthritis and cartilage · 2020Article
- Novel deletion and 2397 G>T mutations of theTranslational pediatrics · 2020Article
- Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.Molecular medicine reports · 2020Article
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
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