Observational studyMedicine2018
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Observational study in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.Bone & joint research · 2025Article
- Subungual melanoma with cartilaginous differentiation: Molecular insights.Journal of cutaneous pathology · 2024Article
- The Missing Piece of the Puzzle: Unveiling the Role ofHuman mutation · 2024Article
- Cases report: Mosaic structural variants of theFrontiers in genetics · 2024Article
- Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Genes · 2022Article
- Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).American journal of translational research · 2022Article
- Hereditary multiple exostoses: A case report and literature review.SAGE open medical case reports · 2022Article
- Modified osteotomy for treatment of forearm deformities (Masada IIb) in hereditary multiple osteochondromas: a retrospective review.BMC musculoskeletal disorders · 2021Article
- Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.Molecular syndromology · 2021Article
- Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.Frontiers in genetics · 2021Review
- Mutational Analysis ofBioMed research international · 2021Article
- 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
- Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.Orthopaedic surgery · 2020Article
- Article
- An Unusual Case of Solitary Osteochondroma of the Iliac Wing.Case reports in orthopedics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated.Mutations were identified by performing Sanger sequencing analysis of the complete coding regions and flanking intronic sequences of EXT1 and EXT2, followed by multiplex ligation-dependent probe amplification (MLPA) analysis to detect gene deletions or duplications that could not be identified by the Sanger sequencing method.The present study identified pathogenic mutations in 93% (68/73) of unrelated HMO probands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families. We identified 58 distinct mutations in EXT1 and EXT2, including 20 frameshift mutations, 16 nonsense mutations, 7 missense mutations, 9 splice site mutations, 5 large deletions, and 1 in-frame deletion mutation. Twenty-six of these mutations were novel and 32 were previously reported. Most of the mutations in EXT1 were base deletions or insertions (21/33), whereas the majority of those in EXT2 were single base substitution (18/25).Complete sequencing of both the EXT1 and EXT2 followed by MLPA analysis is recommended for genetic analysis of Chinese patients with HMO. This study provides a comprehensive characterization of the genetic aberrations found in Chinese patients with HMO and highlights the diagnostic value of molecular genetic analysis in this particular disease.
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