Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome

Shin Yu Lin, Chien Nan Lee, Chia Cheng Hung, Wen Yu Tsai, Shuan Pei Lin, Ni Chung Li, Wu Shiun Hsieh, Yi Ching Tung, Dau Ming Niu, Wen Ming Hsu, Lang Yao Chen, Mei Ya Fang, Mei Pin Tu, Pei Wen Kuo, Chiou Ya Lin, Yi Ning Su, Hong Nerng Ho

研究成果: 雜誌貢獻文章同行評審

9 引文 斯高帕斯(Scopus)

摘要

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous congenital disorder characterized by severe growth retardation. Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ̃45% of the patients with SRS so more than half of these patients have no known genetic etiology. We combined several molecular technologies including multiplex methylation polymerase chain reaction, methylation-sensitive multiple ligation probe-dependent amplification, and methylation-sensitive high-resolution melting to assess the epigenetic status of 34 patients with SRS. Additionally, we applied a whole genome strategy to detect copy number changes and loss of heterozygosity. Thirteen patients (38.2%) had hypomethylation of the DMR of the H19 gene and none had uniparental disomy of maternal chromosome 7. The whole genome arrays identified five patients (14.7%) with microdeletions on chromosomes 1q23q24.3, 7p15.3, 13q31.3, 14q32.31, and 15q26.2qter, respectively. The overall mutation detection rate was 52.9% by the epigenetic study and the whole genome strategy. Although epimutation may be the major cause of SRS and can be identified by multiplex methylation polymerase chain reaction, the whole genome approach also provides information on the etiology of SRS. If no epimutation is identified in the patients with typical SRS, microdeletions should be suspected.
原文英語
頁(從 - 到)2521-2528
頁數8
期刊American Journal of Medical Genetics, Part A
152 A
發行號10
DOIs
出版狀態已發佈 - 十月 1 2010
對外發佈Yes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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