Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods: We 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...

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Published inJournal of medical genetics Vol. 40; no. 10; pp. 741 - 746
Main Authors Ridanpää, M, Ward, L M, Rockas, S, Särkioja, M, Mäkelä, H, Susic, M, Glorieux, F H, Cole, W G, Mäkitie, O
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.10.2003
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Summary:Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods: We 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. Results: Two 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. Conclusion: Cartilage–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.
Bibliography:PMID:14569119
Correspondence to:
 Dr O Mäkitie
 Hospital for Children and Adolescents, University of Helsinki, PO Box 281, FIN-00029 Helsinki, Finland; outi.makitie@helsinki.fi
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.40.10.741