Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

© 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both...

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Main Authors: Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/56788
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spelling th-cmuir.6653943832-567882018-09-05T03:48:56Z Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report Apiruk Sangsin Chulaluck Kuptanon Chalurmpon Srichomthong Monnat Pongpanich Kanya Suphapeetiporn Vorasuk Shotelersuk Biochemistry, Genetics and Molecular Biology Medicine © 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. Case presentation: We report a Thai OI patient who had his first fracture at the age of three months. Using next generation sequencing, we successfully identified two novel compound heterozygous BMP1 mutations. One mutation, c.796_797delTT (p.Phe266Argfs*25) affects both BMP1 and mTLD isoforms, while the other, c.2108-2A > G, affects only the BMP1 isoform. Preservation of the mTLD may explain the relatively less severe clinical phenotype in this patient. Intravenous bisphosphonate was given from the age of 8 months to 5 years. He was free from fractures for 9 months before discontinuation. Conclusion: This case expands the mutation spectrum of BMP1, strengthens the correlation between genotype and phenotype, and supports the benefits of bisphosphonate in OI patients with BMP1 mutations. 2018-09-05T03:30:14Z 2018-09-05T03:30:14Z 2017-03-04 Journal 14712350 2-s2.0-85014340978 10.1186/s12881-017-0384-9 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85014340978&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/56788
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Apiruk Sangsin
Chulaluck Kuptanon
Chalurmpon Srichomthong
Monnat Pongpanich
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
description © 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. Case presentation: We report a Thai OI patient who had his first fracture at the age of three months. Using next generation sequencing, we successfully identified two novel compound heterozygous BMP1 mutations. One mutation, c.796_797delTT (p.Phe266Argfs*25) affects both BMP1 and mTLD isoforms, while the other, c.2108-2A > G, affects only the BMP1 isoform. Preservation of the mTLD may explain the relatively less severe clinical phenotype in this patient. Intravenous bisphosphonate was given from the age of 8 months to 5 years. He was free from fractures for 9 months before discontinuation. Conclusion: This case expands the mutation spectrum of BMP1, strengthens the correlation between genotype and phenotype, and supports the benefits of bisphosphonate in OI patients with BMP1 mutations.
format Journal
author Apiruk Sangsin
Chulaluck Kuptanon
Chalurmpon Srichomthong
Monnat Pongpanich
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_facet Apiruk Sangsin
Chulaluck Kuptanon
Chalurmpon Srichomthong
Monnat Pongpanich
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_sort Apiruk Sangsin
title Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
title_short Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
title_full Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
title_fullStr Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
title_full_unstemmed Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
title_sort two novel compound heterozygous bmp1 mutations in a patient with osteogenesis imperfecta: a case report
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85014340978&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/56788
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