Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing

✍ Scribed by Lieve Nuytinck; Bekir Sitki Sayli; Wettinck Karen; Anne De Paepe

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 118 KB
• Volume: 19
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199909)19:9<873::aid-pd645>3.0.co;2-0

✦ Synopsis

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 and time consuming endeavour. We have developed an alternative approach for confirmation of a suspected diagnosis of OI type I based on the detection of a COL1A1 null-allele. Here we report the application of this COL1A1 null-allele detection test for prenatal diagnosis in a patient with OI type I in which it was shown that the fetus had inherited the normal COL1A1 allele from his affected mother and would not be affected with OI.