title: Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation inCOL1A2.
abstract: Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation inCOL1A2leads 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.
authors.affiliation: Department of Clinical Genetics Odense University Hospital Odense Denmark; Department of Clinical Research, Faculty of Health University of Southern Denmark.
authors.forename: Anja Lisbeth
authors.initials: AL
authors.lastname: Frederiksen
authors.affiliation: Department of Clinical Genetics University Hospital Copenhagen Copenhagen Denmark.
authors.forename: Morten
authors.initials: M
authors.lastname: Duno
authors.affiliation: Department of Clinical Pathology Odense University Hospital Odense Denmark.
authors.forename: Iben B G
authors.initials: IB
authors.lastname: Johnsen
authors.affiliation: Department of Endocrinology Odense University Hospital Odense Denmark.
authors.forename: Morten Frost
authors.initials: MF
authors.lastname: Nielsen
authors.affiliation: Department of Clinical Genetics Odense University Hospital Odense Denmark; Department of Clinical Pathology Odense University Hospital Odense Denmark.
authors.forename: Anne Bruun
authors.initials: AB
authors.lastname: Krøigård
keywords: COL1A2; mosaicism; osteogenesis imperfecta type IIA; splice site mutation