Role of BCOR in root formation with OFCD syndrome

点击翻译按钮获取中文摘要

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant hereditary trait in heterozygous females. Recently, mutations in BCOR, encoding the BCL6 corepressor, have been described to cause OFCD syndrome. In this study, we identified a novel frameshift mutation in BCOR in an OFDC patient. Analysis of nonsense-mediated mRNA decay (NMD), it was significantly increased in BCOR differential expression in OFCD periodontal (PDL) cells. A novel mutation leading to a premature termination codon may affect mRNA expression of BCOR in PDL cells.