ArticleEuropean journal of human genetics : EJHG2016
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 58 citations in OpenAlex.
- Massively parallel characterization of adolescent idiopathic scoliosis risk variants.Genome research · 2026Article
- Somatic Mosaicism Modulating Clinical Severity in COL2A1-Related Skeletal Dysplasia: A Case of Profound Skeletal Asymmetry.Calcified tissue international · 2026Article
- Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.Diagnostics (Basel, Switzerland) · 2026Article
- A novel mutation inJCEM case reports · 2026Article
- Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation ofMolecular syndromology · 2025Article
- Review
- Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Domain specific phenotypic expansion associated with variants inmedRxiv : the preprint server for health sciences · 2025Article
- Considerations for Anthropometry Specific to People with Disproportionate Short Stature.Advances in therapy · 2025Review
- Review
- Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report.Frontiers in immunology · 2024Article
- Clinical and functional characterization ofBone reports · 2023Article
- Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).International journal of molecular sciences · 2022Article
- Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.Scientific reports · 2022Article
- Article
- Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.Frontiers in genetics · 2022Article
- Response to Letter to the Editor from Youn Hee Jee: "Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies".The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- A Novel Splicing Variant ofGenes · 2021Article
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55 authors at 20 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype-phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.
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