title: Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.
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.
authors.affiliation: Centre for Medical Genetics, University Hospital Gent, Belgium. Lieve.Nuytinck@rug.ac.be
authors.forename: L
authors.initials: L
authors.lastname: Nuytinck
authors.forename: B S
authors.initials: BS
authors.lastname: Sayli
authors.forename: W
authors.initials: W
authors.lastname: Karen
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D000483:Alleles; D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D020413:3' Untranslated Regions; D003094:Collagen