title: Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
abstract: 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.
authors: Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, 52621 Israel.
authors: L
authors: L
authors: Ries
authors: M
authors: M
authors: Frydman
authors: G
authors: G
authors: Barkai
authors: B
authors: B
authors: Goldman
authors: E
authors: E
authors: Friedman
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011247:Pregnancy
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D003094:Collagen; D004247:DNA