Clinical phenotype and molecular genetic study of a case with oculo-facio-cardio-dental syndrome

Abstract

Objective To analyze the clinical phenotypes in a family with rare oculo-facio-cardio-dental(OFCD)syndrome and to identify the pathogenic mutation. Methods This was an experimental study. All participants underwent detailed clinical examinations and phenotype data collection. Mutation analyses of the candidate gene BCOR were performed for the patient and her parents to detect the potential mutation by using polymerase chain reaction(PCR)and Sanger sequencing. The single stranded PCR cloning products that carry the nucleotide alterations were sequenced. PCR and sequencing verification were also carried out in 60 unrelated normal control individuals. Results Phenotypic study indicated that this patient with eye, craniofacial, heart, dental, and limb anomalies and papilloma of the choroid plexus, was diagnosed to have OFCD syndrome. No abnormal results were found with her parents. A novel deletion mutation c.1296delT in exon 4 of the BCOR gene was identified in this patient; this change was not found in her parents or in 60 normal unrelated individuals. Conclusion We report on a rare case of OCFD. Papilloma of the choroid plexus was found in an OFCD patient for the first time, expanding the clinical phenotype spectrum of OFCD. Meanwhile, it is a novel deletion mutation c.1296delT of the BCOR gene that causes OFCD. Key words: Phenotype; Oculo-Facio-Cardio-Dental syndrome; BCOR gene