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Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy
Author(s) -
Ries Liat,
Frydman Moshe,
Barkai Gad,
Goldman Boleslaw,
Friedman Eitan
Publication year - 2000
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 - 10.1002/1097-0223(200011)20:11<876::aid-pd936>3.0.co;2-x
Subject(s) - osteogenesis imperfecta , prenatal diagnosis , pregnancy , chorionic villus sampling , fetus , medicine , obstetrics , mutation , pediatrics , genetic counseling , genetics , gene , biology , pathology
Prenatal diagnosis was performed in a family where the father has osteogenesis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C to T change at position c3076 (c.3076C→T) leading to a change of arginine at codon 848 to a stop codon (R848X). Prenatal diagnosis by chorionic villous sampling (CVS) was performed during the fourth pregnancy, and revealed that the fetus is a carrier of the same COL1A1 mutation. The possibility of phenotypic variability was discussed with the parents. They elected to carry the pregnancy to term, and a male child with mild OI was born. This is the first reported case where OI was diagnosed prenatally, and the parents opted to carry the pregnancy to term. It illustrates the potential use of DNA‐based analysis for early prenatal diagnosis of OI, and the complexities of genetic counselling. Copyright © 2000 John Wiley & Sons, Ltd.