Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL 1A2

Abstract

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL 1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA , which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.