目的:探讨长链非编码RNA SBF2-AS1异常表达与肿瘤患者预后和临床病理特征的关系。方法:检索Pubmed、Web of Science、Cochrane Library、Embase、中国知网和万方数据库中2020年3月前发表的关于SBF2-AS1异常表达与癌症预后的相关文献,采...目的:探讨长链非编码RNA SBF2-AS1异常表达与肿瘤患者预后和临床病理特征的关系。方法:检索Pubmed、Web of Science、Cochrane Library、Embase、中国知网和万方数据库中2020年3月前发表的关于SBF2-AS1异常表达与癌症预后的相关文献,采用stata12.0软件进行Meta分析。运用风险比(HR)、比值比(OR)和95%CI对结果进行综合评估,并利用在线网络工具基因表达谱的交互分析(GEPIA)对TCGA数据库进行分析以验证结果的可靠性。结果:共纳入12篇文献,1125例患者。Meta分析结果显示,SBF2-AS1高表达组患者总生存期较短,临床病理特征较差,且TCGA数据库分析结果与上述结果一致。结论:SBF2-AS1高表达与多种癌症患者较差的总生存期和临床病理特征密切相关,有望成为新的肿瘤预后标志物和治疗靶点。展开更多
The authors report a Japanese family segregating autosomal recessive Charcot Marie Tooth disease (CMT) with focally folded myelin, juvenile onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The c...The authors report a Japanese family segregating autosomal recessive Charcot Marie Tooth disease (CMT) with focally folded myelin, juvenile onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.展开更多
Abstract Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma （CMT4B2, OMIM 604563） is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male ado...Abstract Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma （CMT4B2, OMIM 604563） is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset glaucoma. Since clinical diagnosis alone was insufficient for providing pathogenetic evidence to indicate that the condition belonged to a consanguineous family, we applied whole-exome sequencing to samples from the patient, his parents and his younger brother, assuming that the patient＇s condition is transmitted in an autosomal recessive pattern. A frame-shift mutation, c.4571delG （P.Gly1524Glufs＊42）, was revealed in the CMT4B2-related gene SBF2 （also known as MTMR13, MIM 607697）, and this mutation was found to be homozygous in the proband and heterozygous in his parents and younger brother. Together with the results of clinical diagnosis, this case was diagnosed as CMT4B2. Our finding further demonstrates the use of whole-exome sequencing in the diagnosis and treatment of rare diseases.展开更多
文摘目的:探讨长链非编码RNA SBF2-AS1异常表达与肿瘤患者预后和临床病理特征的关系。方法:检索Pubmed、Web of Science、Cochrane Library、Embase、中国知网和万方数据库中2020年3月前发表的关于SBF2-AS1异常表达与癌症预后的相关文献,采用stata12.0软件进行Meta分析。运用风险比(HR)、比值比(OR)和95%CI对结果进行综合评估,并利用在线网络工具基因表达谱的交互分析(GEPIA)对TCGA数据库进行分析以验证结果的可靠性。结果:共纳入12篇文献,1125例患者。Meta分析结果显示,SBF2-AS1高表达组患者总生存期较短,临床病理特征较差,且TCGA数据库分析结果与上述结果一致。结论:SBF2-AS1高表达与多种癌症患者较差的总生存期和临床病理特征密切相关,有望成为新的肿瘤预后标志物和治疗靶点。
文摘The authors report a Japanese family segregating autosomal recessive Charcot Marie Tooth disease (CMT) with focally folded myelin, juvenile onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.
基金supported by the National Natural Science Foundation of China (Grant No. 81172681)
文摘Abstract Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma （CMT4B2, OMIM 604563） is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset glaucoma. Since clinical diagnosis alone was insufficient for providing pathogenetic evidence to indicate that the condition belonged to a consanguineous family, we applied whole-exome sequencing to samples from the patient, his parents and his younger brother, assuming that the patient＇s condition is transmitted in an autosomal recessive pattern. A frame-shift mutation, c.4571delG （P.Gly1524Glufs＊42）, was revealed in the CMT4B2-related gene SBF2 （also known as MTMR13, MIM 607697）, and this mutation was found to be homozygous in the proband and heterozygous in his parents and younger brother. Together with the results of clinical diagnosis, this case was diagnosed as CMT4B2. Our finding further demonstrates the use of whole-exome sequencing in the diagnosis and treatment of rare diseases.
