Glenda M. Beaman a,b, Adrian S. Woolf c,d, Filipa M. Lopes c, Shuang Andrew Guo e,f,g, J. Robert Harkness a,b, Raimondo M. Cervellione d, David Keene d, Imran Mushtaq h, Menna R. Clatworthy f,g,h, William G. Newman a,b,*
Summary
Introduction
Bladder exstrophyeepispadias complex (BEEC) comprises a spectrum of anterior midline congenital malformations, involving the lower urinary tract. BEEC is usually sporadic, but families with more than one affected member have been reported, and a twin concordance study supported a genetic contribution to pathogenesis. Moreover, diverse chromosomal aberrations have been reported in a small subset of individuals with BEEC. The commonest are 22q11.2 microduplications, identified in approximately 3% of BEEC index cases.
Objectives
We aimed to refine the chromosome 22q11.2 locus, and to determine whether the encompassed genes are expressed in normal developing and mature human urinary bladders.
Results
Using DNA from an individual with CBE, the 22q11.2 duplicated locus was refined by identification of a maternally inherited 314 kb duplication (chr22:21,147,293e21,461,017), as depicted in this image. Moreover, the eight protein coding genes within the locus were found to be expressed during normal developing and mature bladders. To determine whether duplications in any of these individual genes were associated with CBE, we undertook copy number analyses in 115 individuals with CBE without duplications of the whole locus. No duplications of individual genes were found.
Discussion
The current study has refined the22q11.2locus associated with BEEC and has shown that the eight protein coding genes are expressed in human bladders both during antenatal development and postnatally. Nevertheless, the precise biological explanation as to why duplication of the phenocritical region of22q11 confers increased susceptibility to BEEC remains to be determined. The fact that individuals with CBE without duplications of the whole locus also lacked duplication of any of the individual genes suggests that in individuals with BEEC and duplication of the 22q11.2 locus altered dosage of more than one gene may be important in BEEC etiology.
Conclusions
The study has refined the 22q11.2 locus associated with BEEC and has shown that the eight protein coding genes within this locus are expressed in human bladders.
擅长：1. 烧伤/烫伤/手术疤痕美学修复; 2. 创面/伤口/溃疡/皮肤缺损美学修复; 3. 全身体表肿瘤/包块手术治疗。
擅长疾病：1.面部轮廓整形;2.面部年轻化;3.身体塑形;4.先天性和创伤后畸形修复、体表肿瘤切除及器官再造。如：黄褐斑、瘢痕疙瘩、减肥 。教授，整形外科副主任，医学博士后，毕业于西安第四军医大学临床医学系，毕业后留校。
在成人大面积烧伤的休克复苏、感染防治、多器官功能障碍综合征的防治、严重电烧伤和吸入性损伤的救治以及小儿重度和特重度烧伤的救治等方面有较高造诣。获黑龙江省科技进步三等奖2项，哈尔滨市科技进步二等奖1项，三等奖2项。
担任欧洲糖尿病学会会员、美国糖尿病学会会员、欧洲糖尿病学会糖尿病足研究组发起会员、中华医学会糖尿病学分会第2届足病学组组长、中国人民解放军内分泌学会副主任委员、北京内分泌学会副主任委员、北京糖尿病防治协会副理事长、北京市朝阳区预防医学会副会长、国家卫生部全国慢性病综合防治示范点专家组成员、中国疾病控制中心慢病中心糖尿病专家、第四军医大学兼职教授，悉尼大学客座教授，第四军医大学硕士研究生导师，中南大学湘雅三医院硕士研究生导师主任医师。
伤口世界平台生态圈，以“关爱人间所有伤口患者”为愿景，连接、整合和拓展线上和线下的管理慢性伤口的资源，倡导远程、就近和居家管理慢性伤口，解决伤口专家的碎片化时间的价值创造、诊疗经验的裂变复制、和患者的就近、居家和低成本管理慢性伤口的问题。
2019广东省医疗行业协会伤口管理分会年会
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