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Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null‐allele testing
Author(s) -
Nuytinck Lieve,
Sayli Bekir Sitki,
Karen Wettinck,
De Paepe Anne
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199909)19:9<873::aid-pd645>3.0.co;2-0
Subject(s) - osteogenesis imperfecta , allele , null allele
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 © 1999 John Wiley & Sons, Ltd.