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.
擅长疾病 : 慢性创面修复,如压疮、糖尿病足、静脉性溃疡、放射性溃疡、开胸手术后切口不愈合、皮肤肿瘤、外伤后骨外露等。各种瘢痕及溃疡。
中华医学会烧伤、医学美容整形专业会员,海南省医学会烧伤整形专业委员会常委兼秘书,海南省医学会烧伤整形专业委员会主要发起人之一。 1988年海南大学医学部毕业,一直从事烧伤救治、创面修复、瘢痕整形的临床医疗工作和科研,为具有烧伤外科专业、整形外科专业资格的执业医师。
大面积危重烧伤救治,各种原因烧烫伤,皮肤瘢痕整形,各种难愈创面的治疗如慢性溃疡、外伤后皮肤软组织缺损、糖尿病足等。
长期从事美容、整形及烧伤专业的临床、教学及科研工作,尤其擅长于体表肿瘤的诊治、瘢痕防治、精于各类美容整形手术、烧伤治疗和创面处理等。
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。