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

Nuytinck L., Sayli B., Karen W., De Paepe A.

PRENATAL DIAGNOSIS, vol.19, no.9, pp.873-875, 1999 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 9
  • Publication Date: 1999
  • Journal Name: PRENATAL DIAGNOSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.873-875
  • Keywords: osteogenesis imperfecta type I, COL1A1, non-functional allele, prenatal diagnosis, HETEROGENEITY, MUTATIONS, COLLAGEN, GENES
  • Ankara University Affiliated: No

Abstract

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. Copyright (C) 1999 John Wiley & Sons, Ltd.