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

• Published in: Journal 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
• Language: English
• Published: London BMJ Publishing Group Ltd 01.10.2003; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Age; Anemia; Antibiotics; Biological and medical sciences; Cartilage; cartilage–hair hypoplasia; CHH; CHH, cartilage–hair hypoplasia; Child, Preschool; COL10A1; Diseases of the osteoarticular system; Endoribonucleases - genetics; Genetic testing; Hematology; Humans; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; MCDS; MCDS, Schmid type of metaphyseal chondrodysplasia; Medical sciences; Medicin och hälsovetenskap; metaphyseal chondrodysplasia type Schmid; mitochondrial RNA processing endoribonuclease; MRP; MRP, mitochondrial RNA processing endoribonuclease; Mutation; Original; Original articles; Osteochondrodysplasias - diagnosis; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - genetics; Patients; Pneumonia; Radiography; Ribonuclease P; RMRP; RNA - genetics; RNA, Catalytic - genetics; RNase MRP; RNase P; Schmid type of metaphyseal chondrodysplasia; single strand conformation polymorphism; SSCP; SSCP, single strand conformation polymorphism; RNA; EC 3.1.27.5; Enzyme; Diseases of the osteoarticular system; Hydrolases; Schmid metaphyseal chondrodysplasia; Genetics; Esterases; Pancreatic ribonuclease; Osteochondrodysplasia; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.40.10.741

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.