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.
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.
Authors: M Ridanpää; H van Eenennaam; K Pelin; R Chadwick; C Johnson; B Yuan; W vanVenrooij; G Pruijn; R Salmela; S Rockas; O Mäkitie; I Kaitila; A de la Chapelle Journal: Cell Date: 2001-01-26 Impact factor: 41.582
Authors: Christian T Thiel; Denise Horn; Bernhard Zabel; Arif B Ekici; Kelly Salinas; Erich Gebhart; Franz Rüschendorf; Heinrich Sticht; Jürgen Spranger; Dietmar Müller; Christiane Zweier; Mark E Schmitt; André Reis; Anita Rauch Journal: Am J Hum Genet Date: 2005-09-29 Impact factor: 11.025