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

Abstract

<p><b>Conclusion</b>: The two discovered mutations in <i>COL1A1</i> 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. <b>Objectives</b>: The aim of this study is to find mutational patterns of <i>COL1A1</i> gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness. <b>Method</b>: Genomic DNA was extracted from the blood of each patient and exons of <i>COL1A1</i> gene were amplified using PCR and sequenced. <b>Results</b>: Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of <i>COL1A1</i> gene, respectively.</p