Abstract
The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental (OFCD) syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296delT in exon 4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome.
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Acknowledgements
We are sincerely grateful to Prof Dr. Wan, Dr. Jia and all the teachers in our research team for their valuable guidance in the course of this research work. To all the members of the research team, we do appreciate the moral support and the immense support we received during the period of this research work. This work was supported by Beijing New Star of Science and Technology (H020821380190, Z131102000413025), Fund of Work Committee for Women and Children of China State Department (2014108), National Natural Science Foundation (30471861), Beijing Institute of Ophthalmology Leading Programme (201515).
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Zhang, J., Jia, H., Wang, J. et al. A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome. Sci. China Life Sci. 62, 119–125 (2019). https://doi.org/10.1007/s11427-018-9374-2
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DOI: https://doi.org/10.1007/s11427-018-9374-2