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

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...

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Detalles Bibliográficos
Autores principales: Frederiksen, Anja Lisbeth, Duno, Morten, Johnsen, Iben B. G., Nielsen, Morten Frost, Krøigård, Anne Bruun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054473/
https://www.ncbi.nlm.nih.gov/pubmed/27761249
http://dx.doi.org/10.1002/ccr3.658
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author Frederiksen, Anja Lisbeth
Duno, Morten
Johnsen, Iben B. G.
Nielsen, Morten Frost
Krøigård, Anne Bruun
author_facet Frederiksen, Anja Lisbeth
Duno, Morten
Johnsen, Iben B. G.
Nielsen, Morten Frost
Krøigård, Anne Bruun
author_sort Frederiksen, Anja Lisbeth
collection PubMed
description 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.
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spelling pubmed-50544732016-10-19 Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2 Frederiksen, Anja Lisbeth Duno, Morten Johnsen, Iben B. G. Nielsen, Morten Frost Krøigård, Anne Bruun Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-08-31 /pmc/articles/PMC5054473/ /pubmed/27761249 http://dx.doi.org/10.1002/ccr3.658 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Frederiksen, Anja Lisbeth
Duno, Morten
Johnsen, Iben B. G.
Nielsen, Morten Frost
Krøigård, Anne Bruun
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title_full Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title_fullStr Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title_full_unstemmed Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title_short Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
title_sort asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in col1a2
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054473/
https://www.ncbi.nlm.nih.gov/pubmed/27761249
http://dx.doi.org/10.1002/ccr3.658
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