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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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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 |
format | Online Article Text |
id | pubmed-3214246 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Wiley Subscription Services, Inc., A Wiley Company |
record_format | MEDLINE/PubMed |
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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