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

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.

SUBMITTER: Frederiksen AL

PROVIDER: S-EPMC5054473 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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

Frederiksen Anja Lisbeth AL Duno Morten M Johnsen Iben B G IB Nielsen Morten Frost MF Krøigård Anne Bruun AB

Clinical case reports 20160831 10

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. ...[more]

PMID: 27761249

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