Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report

Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report

A 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel...

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Main Authors: Sathit Niramitmahapanya, Thitinun Anusornvongchai, Sarinee Pingsuthiwong, Veerasak Sarinnapakorn, Chaicharn Deerochanawong, Thongkum Sunthornthepvarakul
Other Authors: Rangsit University
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/32460
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spelling th-mahidol.324602018-10-19T12:30:16Z Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report Sathit Niramitmahapanya Thitinun Anusornvongchai Sarinee Pingsuthiwong Veerasak Sarinnapakorn Chaicharn Deerochanawong Thongkum Sunthornthepvarakul Rangsit University Mahidol University Medicine A 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel COL1A1 nonsense mutation (c.3202 C→T), a C to T transition at position 3,203, resulting in arginine to stop codon at codon 1026 (R1026X) mutation in exon 42 was found, and this is the first case reported in the literature. 2018-10-19T05:30:16Z 2018-10-19T05:30:16Z 2013-03-01 Article Journal of the Medical Association of Thailand. Vol.96, No.SUPPL.3 (2013), 100-103 01252208 2-s2.0-84876902661 https://repository.li.mahidol.ac.th/handle/123456789/32460 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84876902661&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
Sathit Niramitmahapanya
Thitinun Anusornvongchai
Sarinee Pingsuthiwong
Veerasak Sarinnapakorn
Chaicharn Deerochanawong
Thongkum Sunthornthepvarakul
Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
description A 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel COL1A1 nonsense mutation (c.3202 C→T), a C to T transition at position 3,203, resulting in arginine to stop codon at codon 1026 (R1026X) mutation in exon 42 was found, and this is the first case reported in the literature.
author2 Rangsit University
author_facet Rangsit University
Sathit Niramitmahapanya
Thitinun Anusornvongchai
Sarinee Pingsuthiwong
Veerasak Sarinnapakorn
Chaicharn Deerochanawong
Thongkum Sunthornthepvarakul
format Article
author Sathit Niramitmahapanya
Thitinun Anusornvongchai
Sarinee Pingsuthiwong
Veerasak Sarinnapakorn
Chaicharn Deerochanawong
Thongkum Sunthornthepvarakul
author_sort Sathit Niramitmahapanya
title Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
title_short Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
title_full Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
title_fullStr Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
title_full_unstemmed Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report
title_sort novel col1a1 gene mutation (r1026x) of type i osteogenesis imperfecta: a first case report
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/32460
_version_ 1763491653640781824

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