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Prenatal diagnosis of perinatally lethal osteogenesis imperfecta

โœ Scribed by Elejalde, B. Rafael ;de Elejalde, Maria Mercedes ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
422 KB
Volume
14
Category
Article
ISSN
0148-7299

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Osteogenesis imperfecta (OI) type I is caused by a reduction of type I collagen resulting from the presence of a non-functional COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is required to identify a causal mutation, which is a costly

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In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, si