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:断指(肢)再植、拇、手指再造、皮瓣修复四肢软组织缺损、手的功能重建及畸形矫正手术。硕士研究生导师,南宁市第二人民医院骨科主任、创伤手外科主任及创面治疗中心主任。
毕业于上海交通大学医学院,护理学硕士,创面治疗师。2010年起从事创面修复临床实践与研究,主要研究方向为慢性创面的护理与管理。现任上海交通大学医学院附属第九人民医院伤口、造口、压疮专业小组组长,中国医疗保健国际交流促进会糖尿病足病分会护理学组委员、中国医师协会显微外科医师分会伤口治疗师专业委员会委员。
护理学本科毕业,上海交通大学医学院附属瑞金医院烧伤科总带教、创面修复中心护理组长、创面治疗师、中国创面修复专科建设“1239”三年行动计划专家委员会委员。
上海交大医学院附属瑞金医院创面修复 创面治疗师 、上海市创面修复研究中心主管护师、中国医疗保健国际交流促进会创面修复与再生分会青年委员、全国创面修复专科联盟1239项目成员。
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
扫一扫了解详情:
任何关于疾病的建议都不能替代执业医师的面对面诊断。所有门诊时间仅供参考,最终以医院当日公布为准。
网友、医生言论仅代表其个人观点,不代表本站同意其说法,请谨慎参阅,本站不承担由此引起的法律责任。