A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents

© 2017, Sociedade Brasileira de Genética. Printed in Brazil. Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy...

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Main Authors: Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/43628
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-436282018-04-25T07:16:08Z A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents Siraprapa Tongkobpetch Noppachart Limpaphayom Apiruk Sangsin Thantrira Porntaveetus Kanya Suphapeetiporn Vorasuk Shotelersuk Biochemistry, Genetics and Molecular Biology Agricultural and Biological Sciences © 2017, Sociedade Brasileira de Genética. Printed in Brazil. Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the proband, and not detected in his parents, indicating that it was a de novo mutation. These findings had implication for genetic counseling. In conclusion, we expanded the mutational spectrum of COL1A1 and provided another example of a de novo pathogenic mutation in heterozygosis in a patient born to consanguineous parents. 2018-01-24T03:50:59Z 2018-01-24T03:50:59Z 2017-10-01 Journal 16784685 14154757 2-s2.0-85035804538 10.1590/1678-4685-gmb-2016-0033 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85035804538&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/43628
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Agricultural and Biological Sciences
spellingShingle Biochemistry, Genetics and Molecular Biology
Agricultural and Biological Sciences
Siraprapa Tongkobpetch
Noppachart Limpaphayom
Apiruk Sangsin
Thantrira Porntaveetus
Kanya Suphapeetiporn
Vorasuk Shotelersuk
A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
description © 2017, Sociedade Brasileira de Genética. Printed in Brazil. Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband was the product of a consanguineous marriage, we hypothesized that he might be homozygous for a mutation in a known gene causing a recessive form of OI. Using whole exome sequencing (WES), we did not find any pathogenic mutations in any known gene responsible for an autosomal recessive form of OI. Instead, we identified a COL1A1 frameshift mutation, c.1290delG (p.Gly431Valfs*110) in heterozygosis. By Sanger sequencing, the mutation was confirmed in the proband, and not detected in his parents, indicating that it was a de novo mutation. These findings had implication for genetic counseling. In conclusion, we expanded the mutational spectrum of COL1A1 and provided another example of a de novo pathogenic mutation in heterozygosis in a patient born to consanguineous parents.
format Journal
author Siraprapa Tongkobpetch
Noppachart Limpaphayom
Apiruk Sangsin
Thantrira Porntaveetus
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_facet Siraprapa Tongkobpetch
Noppachart Limpaphayom
Apiruk Sangsin
Thantrira Porntaveetus
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_sort Siraprapa Tongkobpetch
title A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
title_short A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
title_full A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
title_fullStr A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
title_full_unstemmed A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
title_sort novel de novo col1a1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85035804538&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/43628
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