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Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient
Cui, Yun-pu1; Chen, Yi-yu2,3; Wang, Xue-mei1; Wang, Xin-li1; Nan, Xu3,4; Zhao, Hongshan3,4
关键词Cockayne Syndrome Csa Autosomal Recessive Mutation
刊名PEDIATRIC NEUROLOGY
2015-09-01
DOI10.1016/j.pediatrneurol.2015.06.006
53期:3页:262-265
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]GROUP-A GENE ; XERODERMA-PIGMENTOSUM ; REPAIR ; DISORDERS ; PROTEINS
英文摘要

BACKGROUND: Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive. The mutated gene responsible for this syndrome has been identified as usually either CSA (CKN1, ERCC8) or CSB (ERCC6). In this study, we describe the case of a 7-year-old Chinese boy with characteristic symptoms of Cockayne syndrome A and the conduction of mutation screening of the CSA gene. METHODS: The patient was diagnosed with Cockayne syndrome in the pediatrics clinic for growth failure and developmental delay. We collected peripheral blood samples of the patient and his parents and then extracted the genomic DNA. DNA samples from control subjects and the patient were subjected to polymerase chain reaction amplification. All exons and the flanking intron-exon boundaries of CSA were amplified; then, the polymerase chain reaction products were directly sequenced for mutation screening. RESULTS: Two novel heterozygous CSA mutations, c.551-2A>C and c.394_398delTTACA, were identified in the patient. The c.551-2A>C mutation originates from his father and changed the splice acceptor site AG to CG, thus possibly causing alternative splicing. The c.394_398deITTACA from his mother caused a frameshift after the amino acid at position 132, thus introducing a premature stop codon in the gene sequence. CONCLUSIONS: These mutations extend the mutation spectrum of Cockayne syndrome in the context of Chinese race and provide possibilities of prenatal diagnosis for future offsprings in this family.

语种英语
WOS记录号WOS:000360951400017
资助机构Leading Academic Discipline Project of the Beijing Education Bureau
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52588
专题北京大学第三临床医学院_儿科
北京大学基础医学院
作者单位1.Peking Univ, Dept Pediat, Hosp 3, Beijing 100871, Peoples R China
2.Peking Univ, Sch Basic Med Sci, Dept Immunol, Beijing 100871, Peoples R China
3.Peking Univ, Human Dis Genom Ctr, Beijing 100871, Peoples R China
4.Peking Univ, Sch Basic Med Sci, Dept Med Genet, Beijing 100871, Peoples R China
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GB/T 7714
Cui, Yun-pu,Chen, Yi-yu,Wang, Xue-mei,et al. Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient[J]. PEDIATRIC NEUROLOGY,2015,53(3):262-265.
APA Cui, Yun-pu,Chen, Yi-yu,Wang, Xue-mei,Wang, Xin-li,Nan, Xu,&Zhao, Hongshan.(2015).Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.PEDIATRIC NEUROLOGY,53(3),262-265.
MLA Cui, Yun-pu,et al."Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient".PEDIATRIC NEUROLOGY 53.3(2015):262-265.
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