ArticleJournal of medical genetics2003
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
Article in Journal of medical genetics, 2003. 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, 22 citations in OpenAlex.
- A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.Functional & integrative genomics · 2026Article
- 'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.Journal of medical genetics · 2020Article
- GAMETOPHYTE DEFECTIVE 1, a putative subunit of RNases P/MRP, is essential for female gametogenesis and male competence in Arabidopsis.PloS one · 2012Article
- Characterizing ncRNAs in Human Pathogenic Protists Using High-Throughput Sequencing Technology.Frontiers in genetics · 2011Article
- Of proteins and RNA: the RNase P/MRP family.RNA (New York, N.Y.) · 2010Review
- Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2008Article
- Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.American journal of human genetics · 2005Article
- Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.PLoS genetics · 2005Article
- Identification and analysis of ribonuclease P and MRP RNA in a broad range of eukaryotes.Nucleic acids research · 2005Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage.
methodsWe performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1.
resultsTwo patients were found to be homozygous for a base substitution G for A at nucleotide 70 of RMRP, which is the major mutation causing cartilage-hair hypoplasia. No pathogenic mutations were detected in H1RNA.
conclusionCartilage-hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in COL10A1 can be found and the family history is compatible with autosomal recessive inheritance. Correct diagnosis is important for genetic counselling and for proper follow up of the patients.
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