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学科主题: 临床医学
题名:
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient
作者: 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
发表日期: 2015-09-01
DOI: 10.1016/j.pediatrneurol.2015.06.006
卷: 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
项目资助者: Leading Academic Discipline Project of the Beijing Education Bureau
WOS记录号: WOS:000360951400017
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52588
Appears in Collections:北京大学第三临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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