ArticleJournal of medical genetics2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.Molecular syndromology · 2026Review
- A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.Molecular syndromology · 2024Article
- Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.Nature medicine · 2023Article
- A circular network of purine metabolism as coregulators of dilated cardiomyopathy.Journal of translational medicine · 2022Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.BMC medical genomics · 2022Review
- Roles of Chondroitin Sulfate Proteoglycans as Regulators of Skeletal Development.Frontiers in cell and developmental biology · 2022Review
- Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.Diagnostics (Basel, Switzerland) · 2021Review
- Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular aetiology of the disorder is currently unknown.
methodsWhole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with PDD, in order to identify the underlying genetic cause. The functional effects of the identified variants were characterised using primary cells and human cell-based overexpression assays.
resultsWES resulted in the identification of biallelic variants in the established skeletal dysplasia genes,
conclusionFor the families described in this study, the PDD phenotype was caused by mutations in the known skeletal dysplasia genes
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