A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome  

作　　者：Jingshang Zhang Hongyan Jia Jinda Wang Ying Xiong Jing Li Xiaoxia Li Jing Zhao Xiaohui Zhang Qisheng You Guyu Zhu Frank F.Tsai Mark Espina Xiuhua Wan 

机构地区：[1]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital of Capital Medical University [2]Beijing Key Laboratory of Ophthalmology & Visual Sciences [3]Beijing Tongren Eye Center, Beijing Tongren Hospital of Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences [4]Jacobs Retina Center Shiley Eye Institute, University of California San Diego

出　　处：《Science China(Life Sciences)》2019年第1期119-125,共7页中国科学（生命科学英文版）

基　　金：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)

摘　　要：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.1296 delT in exon4 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.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.1296 delT in exon4 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.

关 键 词：oculo-facio-cardio-dental SYNDROME clinical PHENOTYPE BCOR DELETION MUTATION 

分 类 号：Q[生物学]