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Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been re...

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Autores principales: Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Kim, Su Jin, Maeng, Se Hyun, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708087/
https://www.ncbi.nlm.nih.gov/pubmed/23853499
http://dx.doi.org/10.3346/jkms.2013.28.7.1107
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author Cho, Sung Yoon
Ki, Chang-Seok
Sohn, Young Bae
Kim, Su Jin
Maeng, Se Hyun
Jin, Dong-Kyu
author_facet Cho, Sung Yoon
Ki, Chang-Seok
Sohn, Young Bae
Kim, Su Jin
Maeng, Se Hyun
Jin, Dong-Kyu
author_sort Cho, Sung Yoon
collection PubMed
description Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1.
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spelling pubmed-37080872013-07-12 Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1 Cho, Sung Yoon Ki, Chang-Seok Sohn, Young Bae Kim, Su Jin Maeng, Se Hyun Jin, Dong-Kyu J Korean Med Sci Case Report Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another causative gene in OI type VI. To date, only eight SERPINF1 mutations have been reported and all are homozygous. Our patient showed no abnormalities at birth, frequent fractures, osteopenia, and poor response on pamidronate therapy. At the time of her most recent evaluation, she was 8 yr old, and could not walk independently due to frequent lower-extremity fractures, resulting in severe deformity. No clinical signs were seen of hearing impairment, blue sclera, or dentinogenesis imperfecta. In this study, we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c.77dupC and c.421dupC) of SERPINF1. The Korean Academy of Medical Sciences 2013-07 2013-07-03 /pmc/articles/PMC3708087/ /pubmed/23853499 http://dx.doi.org/10.3346/jkms.2013.28.7.1107 Text en © 2013 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Cho, Sung Yoon
Ki, Chang-Seok
Sohn, Young Bae
Kim, Su Jin
Maeng, Se Hyun
Jin, Dong-Kyu
Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title_full Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title_fullStr Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title_full_unstemmed Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title_short Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
title_sort osteogenesis imperfecta type vi with severe bony deformities caused by novel compound heterozygous mutations in serpinf1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708087/
https://www.ncbi.nlm.nih.gov/pubmed/23853499
http://dx.doi.org/10.3346/jkms.2013.28.7.1107
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