Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5

CORC > 厦门大学 > 医学院－已发表论文

	Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5
	Chen Yi-zhi ; Gao Qing ; Zhao Xue-zhi ; Chen Ying-zhang ; Bennett, Craig L. ; Xiong Xi-shan ; Mei Chang-lin ; Shi Yong-quan ; Chen Xiang-mei ; Gao Q(高清)
刊名	http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2010.22.029
	2010-11-20
关键词	HEPATOCYTE NUCLEAR FACTOR-1-BETA FACTOR-I-BETA GLOMERULOCYSTIC KIDNEY-DISEASE MODY5 GENE-MUTATIONS HNF-1-BETA GENE HEPATOCYTE-NUCLEAR-FACTOR-1-BETA GENE TRACT MALFORMATIONS MISSENSE MUTATIONS DELETION PHENOTYPE
英文摘要	Objective There is a paucity of published works that systematically evaluate gene anomalies or clinical features of patients with renal cysts and diabetes syndrome (RCAD)/maturity onset diabetes of the young type 5 (MODY5) The purpose of this review was to systematically assess the detection rate, genetic and phenotypic implications of heterozygous autosomal dominant TCF2 anomalies Data sources MEDLINE database was searched to select articles recorded in English from 1997 to 2008 The focus was monoallelic germline TCF2 gene mutations/deletions Biallelic inactivation, polymorphisms, DNA modification (hypomethylation and hypermethylation), loci associated with cancer risk, and somatic TCF2 anomalies were all excluded Study selection After searching the literature, 50 articles were selected Results The detection rate of TCF2 anomalies was 9 7% and varied considerably among MODY (1 4%), renal structure anomalies (RSA) (21 4%) and RSA with MODY (41 2%) subgroups Mutations were strikingly located within the DNA binding domain and varied among exons of the DNA binding domain exons 2 and 4 were the hottest spots, while mutations were sporadically distributed in exon 3 The consistent phenotypes were RSA (89 6%) and diabetes mellitus (DM) (45 0%) However, the concurrence of RSA and DM was relatively low (27 5%), which hinders the optimal performance of genetic testing and obtainment of timely diagnosis Other organ involvements were complementary and necessary for the early identification of patients with TCF2 anomalies Analysis of phenotypes of TCF2 point mutations showed significant differences in the detection rates of RSA, impaired renal function (IRF) and DM according to mutation type but not mutation location Conclusion These valuable features of TCF2 anomalies that previously did not receive sufficient attention should not be neglected
语种	英语
出版者	CHINESE MED J-PEKING
内容类型	期刊论文
源URL	[http://dspace.xmu.edu.cn/handle/2288/93201]
专题	医学院－已发表论文
推荐引用方式 GB/T 7714	Chen Yi-zhi,Gao Qing,Zhao Xue-zhi,et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5[J]. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2010.22.029,2010.
APA	Chen Yi-zhi.,Gao Qing.,Zhao Xue-zhi.,Chen Ying-zhang.,Bennett, Craig L..,...&高清.(2010).Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2010.22.029.
MLA	Chen Yi-zhi,et al."Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5".http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2010.22.029 (2010).