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Identification of A Novel sbf2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

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Genomics, Proteomics & Bioinformatics 2014年第5期12卷 221-227页

作者： Meiyan Chen Jing Wu Ning Liang Lihui Tang Yanhua Chen Huishuang Chen Wei Wei Tianying Wei Hui Huang Xin Yi Ming Qi BGI-Shenzhen School of Life Sciences The Chinese University of Hong Kong NT Center for Genetic and Genomic Medicine Zhejiang University School of Medicine First Affiliated Hospital and James D. Watson Institute of Genome Sciences Department of Pathology University of Rochester Medical Center

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 （***1524Glufs＊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.

关键词： Whole-exome sequencing Charcot-Marie--Toothdisease Early-onset glaucoma sbf2

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SET结合因子2(sbf2)突变可导致伴青少年青光眼的脱髓鞘型隐性遗传性末梢神经病

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世界核心医学期刊文摘（神经病学分册） 2005年第1期1卷 59-60页

作者： Hirano R. Takashima H. Umehara F. 高中宝 Dept. of Neurology and Gediatrics Kagoshima Univ. School of Medicine 8- 35- 1 Sakuragaoka Kagoshima city Kagoshima 890- 8520 Japan Dr.

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.

关键词：脱髓鞘 sbf2 SET 结合因子无义突变髓鞘蛋白常染色体隐性

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维普期刊数据库

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SET结合因子2(sbf2)突变导致CMT4B和青少年型青光眼

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世界核心医学期刊文摘(眼科学分册) 2005年第1期 6-6页

作者：肖颖 ,Hirano R ,Takashima H,Umehara F Dept.of Neurolog y and Ge diatrics Kag oshima Univ.School of Medicine 8-35-1Sakurag aoka Kag oshima city Kag os hima 890-8520 Japan.Dr.

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth dis ease(CMT )with focally folded myelin,juvenile-onset glau coma,and a nonsense mutation of SET binding factor 2(sbf2).The consistent phenotypic features associated with sbf2mutations are early-onset demyelinating neuropathy,myelin folding,and markedly decreased motor nerve conduction velocities;glaucoma associates with sbf2nonse nse mutations.

关键词：结合因子青少年型青光眼 sbf2 CMT4B SET

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