Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients

Abstract

Conclusion: The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome. Objectives: The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness. Method: Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced. Results: Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively.

Keywords:

• Van der Hoeve syndrome
• mutation
• COL1A1 gene

Acknowledgments

We sincerely thank all the family members for their participation and support in this study. These investigations were supported by the National High Technology Research and Development Program of China (863 Program) to Huijun Yuan (2007AA02E466), National Natural Science Foundation of China to Huijun Yuan (30571018).

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.