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

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

PRENATAL DIAGNOSIS, cilt.19, sa.9, ss.873-875, 1999 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 9
  • Basım Tarihi: 1999
  • Dergi Adı: PRENATAL DIAGNOSIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.873-875
  • Anahtar Kelimeler: osteogenesis imperfecta type I, COL1A1, non-functional allele, prenatal diagnosis, HETEROGENEITY, MUTATIONS, COLLAGEN, GENES
  • Ankara Üniversitesi Adresli: Hayır

Özet

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.