Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome.

摘要

A primigravid woman 35 years of age was referred to the hospital for genetic counseling in the second trimester because of advanced maternal age and a positive family history of type IV osteogenesis imperfecta (OI). The woman had a body weight of 56 kg and a height of 145 cm, and her husband had a height of 168 cm. Her husband had normal sclerae, normal stature, dentinogenesis imperfecta, and osteopenia, and he had sustained mild fractures with trauma since childhood. The husband, his 13-year-old daughter (151 cm in height) from a previous marriage, his mother (150 cm in height), and his aunt also had type IV OI. His daughter had multiple fractures of the long bones that required long-term bisphosphonate treatment.