A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Abstract 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 th...

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Bibliographic Details
Main Authors: Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2017-09-01
Series:Genetics and Molecular Biology
Subjects:
osteogenesis imperfect
COL1A1
exome sequencing
next generation sequencing
Thai
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017005024101&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017005024101&lng=en&tlng=en

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