Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

Anja Lisbeth Frederiksen, Morten Duno, Iben B G Johnsen, Morten Frost Nielsen, Anne Bruun Krøigård

Abstract

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 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.

OriginalsprogEngelsk
TidsskriftAACE clinical case reports
Vol/bind4
Udgave nummer10
Sider (fra-til)972-978
Antal sider7
DOI
StatusUdgivet - okt. 2016

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