ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Expanding the phenome and variome of skeletal dysplasia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 70 citations in OpenAlex.
- Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.Journal of human genetics · 2026Article
- Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.Orphanet journal of rare diseases · 2026Article
- Expanding the Phenotypic Spectrum of Anauxetic Dysplasia Type 3: Reporting an Iranian Family With Unique Systemic Features andClinical case reports · 2026Article
- RNase MRP subunit composition and role in 40S ribosome biogenesis.Nature structural & molecular biology · 2026Article
- Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.medRxiv : the preprint server for health sciences · 2025Article
- Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.FEBS letters · 2025Article
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.European journal of human genetics : EJHG · 2025Article
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
- Review
- Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.American journal of medical genetics. Part A · 2024Article
- Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.Journal of human genetics · 2024Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia.Journal, genetic engineering & biotechnology · 2024Article
- High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures.International journal of molecular sciences · 2024Article
- Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Molecular genetics and metabolism · 2023Review
- Current Status of Next-Generation Sequencing in Bone Genetic Diseases.International journal of molecular sciences · 2023Review
- Wnt signaling: Essential roles in osteoblast differentiation, bone metabolism and therapeutic implications for bone and skeletal disorders.Genes & diseases · 2023Review
Corrections and comments
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Authors and funding
56 authors at 19 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.
methodsDetailed phenotyping and next-generation sequencing (panel and exome).
resultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.
conclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.
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