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Clinical and Molecular Characterization of the Bladder Blackwell Science, LtdOxford, UKBJUBJU International1464-410XBJU InternationalDecember 2004 949 Original Article CHARACTERIZATION OF THE BLADDER EXSTROPHY-EPISPADIAS COMPLEX BOYADJIEV et al. Authors from John Hopkins Clinical and molecular University School of Medicine in Baltimore present their study characterization of the bladder into the identifying genetic and exstrophy-epispadias complex: non-genetic factors contributing to the risk of bladder exstrophy- analysis of 232 families epispadias complex. They found it to occur most commonly as an SIMEON A. BOYADJIEV, JENNIFER L. DODSON*, CRISTI L. RADFORD, GERALD H. ASHRAFI, TERRI H. BEATY†, RANJIV I. MATHEWS*, isolated sporadic birth defect, and KARL W. BROMAN‡ and JOHN P. GEARHART* found no evidence of a single-gene McKusick-Nathans Institute of Genetic Medicine, and *Division of Paediatric Urology, The James effect or a common environmental Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, †Department of Epidemiology, and ‡Department of Biostatistics, Johns Hopkins Bloomberg School of Public factor. Health, Baltimore, MA, USA Accepted for publication 22 July 2004 OBJECTIVE advanced parental age (P < 0.001). Birth weight, gestational age and maternal To identify genetic and nongenetic factors reproductive history did not appear to be contributing to the risk of bladder exstrophy- significantly different from those in the epispadias complex (BEEC). general population. Information on exposures to tobacco, alcohol and drugs was collected PATIENTS AND METHODS but none appeared to act as a risk factor. Karyotype analysis on 37 cases detected two In all, 285 families with BEEC were invited to chromosomal abnormalities, i.e. 46XY participate in the study, and 232 of them were t(8;9)(p11.2; q13) and 47XYY. Molecular recruited. Epidemiological information was analysis of the HLXB9 gene, which causes obtained from 151 of the consenting families, Currarino syndrome, did not detect mutations with a detailed clinical genetic examination of in the blood or bladder DNA of 10 patients 94 probands. In all, 440 DNA samples were with bladder or cloacal exstrophy. collected from 163 families for molecular analysis. CONCLUSIONS RESULTS BEEC most commonly occurs as an isolated Most of the cases were sporadic and had no sporadic birth defect with a recurrence risk of family history of BEEC. Among patients, 95% << 1%. There was no evidence of a single- were Caucasian, and males were more gene effect or common environmental factor common in both the epispadias group (M/F, in this study population. In addition to race 2.2, 29 patients) and the classic bladder- and advanced parental age, birth order may exstrophy group (M/F 1.8, 164), but in the be a risk factor for BEEC. We suggest somatic cloacal exstrophy group the sex ratio was mutations in a gene(s) within the pathway close to unity (1.1, 15). There was a regulating bladder development may be the statistically significant association with cause of BEEC. © 2004 BJU INTERNATIONAL | 94, 1337–1343 | doi:10.1111/j.1464-410X.2004.05170.x 1337 BOYADJIEV ET AL. KEYWORDS [15,16]. The timing of the rupture may actively recruiting additional families for this determine the severity within the BEEC study. bladder exstrophy, epispadias, cloacal, spectrum; if the membrane ruptures before genetics, epidemiology 4–6 weeks, CE ensues; if it ruptures after the DNA AND RNA ISOLATION, PCR AND urorectal septum has descended at 6 weeks, SEQUENCING ANALYSIS BE or epispadias occurs [1]. INTRODUCTION Genomic DNA was isolated from whole Although many descriptive epidemiology blood, buccal swabs, mouth washes, or The bladder exstrophy-epispadias complex reports have been published [2,10,17], the lymphoblastoid cell lines, using standard (BEEC) represents a spectrum of urological causes of BEEC remain unknown. The reported protocols (Puregene, Gentra Systems, Inc., abnormalities in which part or all of the distal risk factors include young maternal age [6], Minneapolis, USA). When available, discarded urinary tract fails to close and is exposed on increased parity even after adjusting for age bladder tissue was collected during surgical the outer abdominal wall. This rare congenital [18], and in vitro fertilization [19]. Possible procedures for DNA and RNA extraction. Total anomaly is thought to be a clinical spectrum genetic factors have been suggested, based RNA from lymphoblastoid cell lines and ranging from isolated epispadias to classic on observations of rare familial cases, high bladder specimens was extracted using a bladder exstrophy (CBE), to its most severe but incomplete concordance in monozygotic standard Trizol protocol. RNA from blood was form, cloacal exstrophy (CE) [1,2]. CE is also twins, and a single report of increased isolated with ZR whole-blood total RNA referred to as the ‘OEIS’ complex, an acronym recurrence risk of 1 in 70 for BEEC in the Kit (Zymo Research, Orange, CA). RNA for omphalocele, exstrophy of the bladder, offspring of an affected parent [20–23]. These preparations were purified (RNAeasy, imperforate anus and spinal defects [3]. observations, along with the non-Mendelian Qiagen, Valencia, CA), quantified by Intermediate variants of BEEC have been inheritance of BEEC, suggest that spectrophotometry, and stored at -80 ∞C. described, including covered exstrophy, in spontaneous errors of development such as which the bladder mucosa is covered with somatic mutation, or complex gene– All exons of the HLXB9 gene (GenBank skin, but the underlying bladder and skeletal environment interactions, may be responsible accession #AF107457) were amplified with at abnormalities are similar to CBE [4,5]. for BEEC. least 100 bp of flanking intronic sequences from bladder DNA obtained from five patients The reported incidence of BEEC varies, but the We initiated a genetic study aiming to further with CE, and genomic blood DNA of five most commonly accepted values are 1 in clinically characterize BEEC and to identify the individuals with CBE. The PCR protocols and 117 000 for male and 1 in 400 000 for female demographic, environmental and genetic primer sequences are available on request. epispadias [1,2]; 1 in 30 000 live births for CBE factors that are associated with this complex PCR products were purified from gel bands or [6]; and 1 in 200 000 to 1 in 400 000 for CE and heterogeneous birth defect. solution using a column purification kit [2,7]. The incidence of CE among stillborn (GFXTM PCR, Amersham Pharmacia Biotech infants may be significantly higher than in Inc., Piscataway, NJ). Sequencing was carried live-born babies, ranging from 1 in 10 000 to PATIENTS AND METHODS out by the di-deoxy chain termination 1 in 50 000 [8]. There is an overall greater method using the Sequenase version 2.0 DNA proportion of males than females in BEEC, The study was approved by the Institutional sequencing kit (Amersham). The ABI Prism ranging from 2.3 : 1 to 6 : 1 in different Review Boards of the Johns Hopkins Hospital, 3700 and 3730 automated fluorescent DNA reports [9,10]. According to the Birth Defects and was conducted in accordance with its analysers (PE Biosystems, Foster City, CA) were Monitoring Program of the Centers for guidelines. In all, 285 families with BEEC, most used for sequencing. Disease Control and Prevention (CDC), the of them identified through our institutionally birth prevalence of BEEC varies among the approved BEEC database of 815 patients, were All results were assessed statistically with R ethnic groups in North America. The highest invited to participate, and 232 were recruited. version 1.8.1 [24]. The comparison of the male rate of 8 per 100 000 was in Native American Of these, 155 were enrolled during clinical : female ratios to the expected 1 : 1 was populations, while the lowest rate of 1 per visits to the Paediatric Urology Clinic at the assessed using a binomial test. All other tests 100 000 was in Asians [11]. hospital. The rest of the families contacted us of significance were based on the chi-square as a result of a study invitation placed on the test. Animal models of BE have been developed web site of an Internet support group (http:// and provide a better understanding of the www.bladderexstrophy.com), or were referred developmental mechanisms of BEEC [12–14]. by an outside physician. Consent was RESULTS Normal embryological development of the obtained before parental interviews, clinical bladder begins at 4–6 weeks of gestation, examinations, and/or sample collection. Based on direct examination and/or available when the urogenital septum divides the clinical records, we determined the primary cloaca into the anterior urogenital sinus and An epidemiological questionnaire modelled diagnosis in 232 cases; epispadias was posterior anorectal canal. The cloacal after the National Birth Defect Prevention diagnosed in 33 (14%), CBE in 180 probands membrane is invaded laterally by mesoderm Study questionnaire developed by the CDC (78%), and CE in 19 (8%). Consistent with the to create the lower abdominal wall. Currently, was completed by 151 families (http:// proposed hypothesis that BEEC represents a the most accepted view is that premature www.nbdpn.org/NBDPN). Partial clinical and clinical spectrum encompassing epispadias, rupture or abnormal development of the past medical information was available for CBE and CE, there were intermediate cloacal membrane is the cause of BEEC the rest of the consenting families. We are phenotypes in several patients. One patient 1338 © 2004 BJU INTERNATIONAL CHARACTERIZATION OF THE BLADDER EXSTROPHY-EPISPADIAS COMPLEX three CE patients with unilateral kidney Diagnosis (n) Males Females M/F ratio TABLE 1 agenesis). Epispadias (29) 20 9 2.2 The sex distribution CBE (164) 105 59 1.8 Seven patients with BEEC had anomalies CE (15) 8 7 1.1 outside the BEEC spectrum. These included Total (208) 133 75 1.8 four with cardiac defects, i.e. a ventriculo- septal defect (two), ventriculo-septal defect and patent foramen ovale, and bicuspid aortic valve.
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