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Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI

Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficki...

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Autores principales: Homan, Erica P, Rauch, Frank, Grafe, Ingo, Lietman, Caressa, Doll, Jennifer A, Dawson, Brian, Bertin, Terry, Napierala, Dobrawa, Morello, Roy, Gibbs, Richard, White, Lisa, Miki, Rika, Cohn, Daniel H, Crawford, Susan, Travers, Rose, Glorieux, Francis H, Lee, Brendan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214246/
https://www.ncbi.nlm.nih.gov/pubmed/21826736
http://dx.doi.org/10.1002/jbmr.487
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author Homan, Erica P
Rauch, Frank
Grafe, Ingo
Lietman, Caressa
Doll, Jennifer A
Dawson, Brian
Bertin, Terry
Napierala, Dobrawa
Morello, Roy
Gibbs, Richard
White, Lisa
Miki, Rika
Cohn, Daniel H
Crawford, Susan
Travers, Rose
Glorieux, Francis H
Lee, Brendan
author_facet Homan, Erica P
Rauch, Frank
Grafe, Ingo
Lietman, Caressa
Doll, Jennifer A
Dawson, Brian
Bertin, Terry
Napierala, Dobrawa
Morello, Roy
Gibbs, Richard
White, Lisa
Miki, Rika
Cohn, Daniel H
Crawford, Susan
Travers, Rose
Glorieux, Francis H
Lee, Brendan
author_sort Homan, Erica P
collection PubMed
description Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characterized by an increased amount of unmineralized osteoid, thereby suggesting a distinct disease mechanism. In a large consanguineous family with OI type VI, we performed homozygosity mapping and next-generation sequencing of the candidate gene region to isolate and identify the causative gene. We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF 1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. Hence, loss of pigment epithelium-derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization. © 2011 American Society for Bone and Mineral Research
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spelling pubmed-32142462012-12-01 Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI Homan, Erica P Rauch, Frank Grafe, Ingo Lietman, Caressa Doll, Jennifer A Dawson, Brian Bertin, Terry Napierala, Dobrawa Morello, Roy Gibbs, Richard White, Lisa Miki, Rika Cohn, Daniel H Crawford, Susan Travers, Rose Glorieux, Francis H Lee, Brendan J Bone Miner Res Clinical Vignette Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characterized by an increased amount of unmineralized osteoid, thereby suggesting a distinct disease mechanism. In a large consanguineous family with OI type VI, we performed homozygosity mapping and next-generation sequencing of the candidate gene region to isolate and identify the causative gene. We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF 1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. Hence, loss of pigment epithelium-derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization. © 2011 American Society for Bone and Mineral Research Wiley Subscription Services, Inc., A Wiley Company 2011-12 2011-11-21 /pmc/articles/PMC3214246/ /pubmed/21826736 http://dx.doi.org/10.1002/jbmr.487 Text en © 2011 American Society for Bone and Mineral Research http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Clinical Vignette
Homan, Erica P
Rauch, Frank
Grafe, Ingo
Lietman, Caressa
Doll, Jennifer A
Dawson, Brian
Bertin, Terry
Napierala, Dobrawa
Morello, Roy
Gibbs, Richard
White, Lisa
Miki, Rika
Cohn, Daniel H
Crawford, Susan
Travers, Rose
Glorieux, Francis H
Lee, Brendan
Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title_full Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title_fullStr Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title_full_unstemmed Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title_short Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
title_sort mutations in serpinf1 cause osteogenesis imperfecta type vi
topic Clinical Vignette
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214246/
https://www.ncbi.nlm.nih.gov/pubmed/21826736
http://dx.doi.org/10.1002/jbmr.487
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