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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.

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