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

种系突变 遗传学 青少年成熟型糖尿病 点突变 2型糖尿病 外显子 糖尿病 医学 生殖系 生物 突变 内科学 生物信息学 肿瘤科 基因 内分泌学
作者
Yizhi Chen,Qing Gao,Xuezhi Zhao,Yingzhang Chen,Craig L. Bennett,Xiong Xishan,Changlin Mei,Yongquan Shi,Xiangmei Chen
出处
期刊:PubMed 卷期号:123 (22): 3326-33 被引量:98
链接
标识
摘要

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.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.After searching the literature, 50 articles were selected.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.These valuable features of TCF2 anomalies that previously did not receive sufficient attention should not be neglected.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
yang发布了新的文献求助10
刚刚
Ava应助彪壮的青雪采纳,获得10
刚刚
呆萌语梦发布了新的文献求助10
刚刚
Rita完成签到,获得积分10
1秒前
桂花酒酿发布了新的文献求助10
1秒前
852应助文艺的匪采纳,获得10
1秒前
健康的抽屉完成签到,获得积分10
1秒前
小罗发布了新的文献求助10
1秒前
2秒前
kkjl发布了新的文献求助20
3秒前
wjx关注了科研通微信公众号
3秒前
梦幻发布了新的文献求助10
4秒前
希望天下0贩的0应助ing采纳,获得10
4秒前
初(*^▽^*)心完成签到,获得积分10
5秒前
5秒前
7秒前
7秒前
顾台关注了科研通微信公众号
7秒前
Akim应助卫文奎采纳,获得10
7秒前
1376完成签到,获得积分10
8秒前
ciiil发布了新的文献求助10
8秒前
9秒前
科研r发布了新的文献求助10
9秒前
飞扬的刘海儿应助蓝风铃采纳,获得10
11秒前
无花果应助桂花酒酿采纳,获得10
11秒前
目土土发布了新的文献求助10
12秒前
晴漾完成签到 ,获得积分10
13秒前
微笑冰旋完成签到 ,获得积分10
13秒前
Yu_6nd23发布了新的文献求助10
13秒前
14秒前
14秒前
CodeCraft应助不安的大门采纳,获得10
16秒前
搜集达人应助SUS采纳,获得10
17秒前
微笑冰旋关注了科研通微信公众号
17秒前
cctv18应助内向秋寒采纳,获得30
18秒前
18秒前
HDJ发布了新的文献求助10
19秒前
21秒前
zkPlato发布了新的文献求助10
22秒前
小小王完成签到 ,获得积分10
23秒前
高分求助中
The late Devonian Standard Conodont Zonation 2000
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
Smart but Scattered: The Revolutionary Executive Skills Approach to Helping Kids Reach Their Potential (第二版) 1000
Very-high-order BVD Schemes Using β-variable THINC Method 830
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 800
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 800
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3247717
求助须知:如何正确求助?哪些是违规求助? 2890987
关于积分的说明 8265743
捐赠科研通 2559230
什么是DOI,文献DOI怎么找? 1388048
科研通“疑难数据库(出版商)”最低求助积分说明 650670
邀请新用户注册赠送积分活动 627571