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...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.展开更多
尤因样肉瘤(Ewing’s like sarcoma,ELS)是一组与经典的尤因肉瘤(Ewing’s sarcoma,ES)有不同程度临床和病理特征相似的肿瘤,其亚型包括CIC重排肉瘤(CIC-rearranged sarcoma,CRS)、BCOR重排肉瘤、EWSR1与非ETS转录因子重排肉瘤和其他未...尤因样肉瘤(Ewing’s like sarcoma,ELS)是一组与经典的尤因肉瘤(Ewing’s sarcoma,ES)有不同程度临床和病理特征相似的肿瘤,其亚型包括CIC重排肉瘤(CIC-rearranged sarcoma,CRS)、BCOR重排肉瘤、EWSR1与非ETS转录因子重排肉瘤和其他未分类的小圆细胞肉瘤。该文就ELS的临床和病理特征作一综述。展开更多
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)+1 种基金National Natural Science Foundation (30471861)Beijing Institute of Ophthalmology Leading Programme (201515)
文摘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.
文摘尤因样肉瘤(Ewing’s like sarcoma,ELS)是一组与经典的尤因肉瘤(Ewing’s sarcoma,ES)有不同程度临床和病理特征相似的肿瘤,其亚型包括CIC重排肉瘤(CIC-rearranged sarcoma,CRS)、BCOR重排肉瘤、EWSR1与非ETS转录因子重排肉瘤和其他未分类的小圆细胞肉瘤。该文就ELS的临床和病理特征作一综述。
