施密德干骺端软骨发育不良中核糖核酸酶MRP和核糖核酸酶P的RNA成分的基因变化。
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
作者信息
Ridanpää M, Ward L M, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux F H, Cole W G, Mäkitie O
机构信息
Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, FI-00014 University of Helsinki, Finland.
出版信息
J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741.
Abstract
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.
摘要
背景
施密德型干骺端软骨发育不良（MCDS）通常是由于编码软骨X型胶原的COL10A1基因突变所致。
方法
我们对20例诊断为MCDS且COL10A1无突变的患者进行了编码核糖核酸酶MRP（MRPR）和核糖核酸酶P（H1RNA）的RNA成分的基因研究。
结果
发现两名患者在RMRP的第70个核苷酸处存在A被G取代的纯合碱基替换，这是导致软骨毛发发育不全的主要突变。在H1RNA中未检测到致病突变。
结论
即使没有任何骨骼外表现，如果未发现COL10A1突变且家族史符合常染色体隐性遗传，对于干骺端软骨发育不良患者也应考虑软骨毛发发育不全的诊断。正确诊断对于遗传咨询和患者的适当随访很重要。
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