Artigo Revisado por pares

Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology

2007; Wiley; Volume: 143A; Issue: 22 Linguagem: Inglês

10.1002/ajmg.a.31975

ISSN

1552-4833

Autores

Heiko Reutter, Lihong Qi, John P. Gearhart, Thomas M. Boemers, Anne‐Karoline Ebert, Wolfgang Rösch, Michael Ludwig, Simeon A. Boyadjiev,

Tópico(s)

Pediatric Urology and Nephrology Studies

Resumo

American Journal of Medical Genetics Part AVolume 143A, Issue 22 p. 2751-2756 Research Letter Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology†‡ Heiko Reutter, Corresponding Author Heiko Reutter [email protected] Department of Human Genetics, University of Bonn, Bonn, GermanyDepartment of Human Genetics, University of Bonn, Wilhelmstraße 31, Bonn 53111, Germany.Search for more papers by this authorLihong Qi, Lihong Qi Rowe Program in Human Genetics, Department of Public Health Sciences, University of California—Davis, Davis, CaliforniaSearch for more papers by this authorJohn P. Gearhart, John P. Gearhart Department of Urology, The Johns Hopkins Hospital, Baltimore, MarylandSearch for more papers by this authorThomas Boemers, Thomas Boemers Department of Pediatric Surgery and Pediatric Urology, Children's Hospital, Cologne, GermanySearch for more papers by this authorAnne-Karoline Ebert, Anne-Karoline Ebert Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, GermanySearch for more papers by this authorWolfgang Rösch, Wolfgang Rösch Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, GermanySearch for more papers by this authorMichael Ludwig, Michael Ludwig Department of Clinical Biochemistry, University of Bonn, Bonn, GermanySearch for more papers by this authorSimeon A. Boyadjiev, Simeon A. Boyadjiev Section of Genetics, Department of Pediatrics, University of California—Davis, Davis, CaliforniaSearch for more papers by this author Heiko Reutter, Corresponding Author Heiko Reutter [email protected] Department of Human Genetics, University of Bonn, Bonn, GermanyDepartment of Human Genetics, University of Bonn, Wilhelmstraße 31, Bonn 53111, Germany.Search for more papers by this authorLihong Qi, Lihong Qi Rowe Program in Human Genetics, Department of Public Health Sciences, University of California—Davis, Davis, CaliforniaSearch for more papers by this authorJohn P. Gearhart, John P. Gearhart Department of Urology, The Johns Hopkins Hospital, Baltimore, MarylandSearch for more papers by this authorThomas Boemers, Thomas Boemers Department of Pediatric Surgery and Pediatric Urology, Children's Hospital, Cologne, GermanySearch for more papers by this authorAnne-Karoline Ebert, Anne-Karoline Ebert Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, GermanySearch for more papers by this authorWolfgang Rösch, Wolfgang Rösch Department of Pediatric Urology, St. Hedwig Hospital, Barmherzige Brüder, GermanySearch for more papers by this authorMichael Ludwig, Michael Ludwig Department of Clinical Biochemistry, University of Bonn, Bonn, GermanySearch for more papers by this authorSimeon A. Boyadjiev, Simeon A. Boyadjiev Section of Genetics, Department of Pediatrics, University of California—Davis, Davis, CaliforniaSearch for more papers by this author First published: 15 October 2007 https://doi.org/10.1002/ajmg.a.31975Citations: 50 † Heiko Reutter and Lihong Qi contributed equally. ‡ How to cite this article: Reutter H, Qi L, Gearhart JP, Boemers T, Ebert A-K, Rösch W, Ludwig M, Boyadjiev SA. 2007. Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology. Am J Med Genet Part A 143A:2751–2756. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Ahmed S. 2003. Urinary tract reconstruction augmentation cystoplasty. Saudi Med J 24: 45–46. Google Scholar Allen G, Harvald B, Shields J. 1967. Measures of twin concordance. Acta Genet Stat Med 17: 475–481. CASPubMedWeb of Science®Google Scholar Anonymous 1987. Epidemiology of bladder exstrophy and epispadias: A communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology 36: 221–227. 10.1002/tera.1420360210 PubMedWeb of Science®Google Scholar Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP. 2004. Clinical and molecular characterization of the bladder exstrophy–epispadias complex: Analysis of 232 families. BJU Int 94: 1337–1343. 10.1111/j.1464-410X.2004.05170.x PubMedWeb of Science®Google Scholar Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. 2005. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics 85: 622–629. 10.1016/j.ygeno.2005.01.002 CASPubMedWeb of Science®Google Scholar Bruch SW, Adzick NS, Goldstein RB, Harrison MR. 1996. Challenging the embryogenesis of cloacal exstrophy. J Pediatr Surg 31: 768–770. 10.1016/S0022-3468(96)90128-1 CASPubMedWeb of Science®Google Scholar Bryan EM. 1992. Twins and Higher Multiple Births: A Guide to Their Nature and Nurture. London: Edward Arnold. p 16–18. Web of Science®Google Scholar Bugge M. 1981. Monozygotic twins discordant for exstrophy of the urinary bladder. J Med Genet 18: 139–141. 10.1136/jmg.18.2.139 CASPubMedWeb of Science®Google Scholar Bulmer MG. 1970. The embryology of twinning. In: MG Bulmer, editor. The Biology of Twinning in Man. Oxford: Clarendon Press. p 25–45. Google Scholar Carey JC. 2001. Exstrophy of the cloaca and the OEIS complex: One and the same. Am J Med Genet 99: 270. 10.1002/ajmg.1211 CASPubMedWeb of Science®Google Scholar Carter CO. 1976. Genetics of common single malformations. Br Med Bull 32: 21–26. 10.1093/oxfordjournals.bmb.a071318 CASPubMedWeb of Science®Google Scholar Casale P, Grady RW, Waldhausen JH, Joyner BD, Wright J, Mitchell ME. 2004. Cloacal exstrophy variants. Can blighted conjoined twinning play a role? J Urol 172: 1103–1107. 10.1097/01.ju.0000142108.62457.81 PubMedWeb of Science®Google Scholar Cerrah Celayir A, Celayir S, Oner N, Vural G, Danismend N. 2000. Duplicated exstrophy in one of identical twins. Urology 56: 330. 10.1016/S0090-4295(00)00571-9 CASPubMedGoogle Scholar Cheng W, Jacobs WB, Zhang JJ, Moro A, Park JH, Kushida M, Qiu W, Mills AA, Kim PC. 2006. ΔNp63 plays an anti-apoptotic role in ventral bladder development. Development 133: 4783–4792. 10.1242/dev.02621 CASPubMedWeb of Science®Google Scholar Chisholm TC, McFarland FA. 1979. Exstrophy of the urinary bladder: Incidence and etiology. In: MM Ravitch, KJ Welch, CD Benson, O Aberdeen, JG Randolph, editors. Pediatric Surgery 3e. Vol. 2. Chicago: Year Book Medical Publishers. p 1239. Google Scholar Chitnis S, Derom C, Vlietinck R, Derom R, Monteiro J, Gregersen PK. 1999. X chromosome-inactivation patterns confirm the late timing of monoamniotic-MZ twinning. Am J Hum Genet 65: 570–571. 10.1086/302502 CASPubMedWeb of Science®Google Scholar Chitrit Y, Zorn B, Filidori M, Robert E, Chasseray JE. 1993. Cloacal exstrophy in monozygotic twins detected through antenatal ultrasound scanning. J Clin Ultrasound 21: 339–342. 10.1002/jcu.1870210509 CASPubMedWeb of Science®Google Scholar Choi JK, Kim SC. 2007. Environmental effects on gene expression phenotype have regional biases in the human genome. Genetics 175: 1607–1613. 10.1534/genetics.106.069047 CASPubMedWeb of Science®Google Scholar Coates WH. 1805. Case of remarkable conformation of the urinary and genital organs in a female child. Edinb Med Surg J 39–42. Google Scholar Corona-Rivera JR, Corona-Rivera E, Franco-Topete R, Acosta-Leon J, Aguila-Duenas V, Corona-Rivera A. 2003. Atypical parasitic ischiopagus conjoined twins. J Pediatr Surg 38: e3. 10.1053/jpsu.2003.50063 PubMedWeb of Science®Google Scholar Derom R, Derom C, Vlietinck R. 1995. Placentation. In: LG Keith, E Papiernik, DM Keith, B Luke, editors. Multiple Pregnancy: Epidemiology, Gestation and Perinatal Outcome. New York: Parthenon. p 113–128. Google Scholar Enderlen E. 1904. Über Blasenekstrophie. Wiesbaden. Google Scholar Gearhart JP, Jeffs RD. 1998. Exstrophy–epispadias complex and bladder anomalies. In: PC Walsh, AB Retnik, ED Vaughan, AJ Wein, editors. Campell's Urology. Philadelphia: WB Saunders Co. p 1939–1990. Google Scholar Goldfischer ER, Almond PS, Statter MB, Miller G, Arensman RM, Cromie WJ. 1997. Omphalopagus twins with covered cloacal exstrophy. J Urol 157: 1004–1005. 10.1016/S0022-5347(01)65132-2 CASPubMedWeb of Science®Google Scholar Hesser JW, Murata Y, Swalwell CI. 1984. Exstrophy of cloaca with omphalocele: Two cases. Am J Obstet Gynecol 150: 1004–1006. 10.1016/0002-9378(84)90403-4 CASPubMedWeb of Science®Google Scholar Hiett AK, Devoe LD, Falls DG III, Martin SA. 1992. Ultrasound diagnosis of a twin gestation with concordant body stalk anomaly. A case report. J Reprod Med 37: 944–946. CASPubMedWeb of Science®Google Scholar Higgins CC. 1962. Exstrophy of the bladder: Report of 158 cases. Am Surg 28: 99–102. CASPubMedGoogle Scholar Ince TA, Cviko AP, Quade BJ, Yang A, McKeon FD, Mutter GL, Crum CP. 2002. p63 coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Am J Pathol 161: 1111–1117. 10.1016/S0002-9440(10)64387-8 CASPubMedWeb of Science®Google Scholar Ives E, Coffey R, Carter CO. 1980. A family study of bladder exstrophy. J Med Genet 17: 139–141. 10.1136/jmg.17.2.139 CASPubMedWeb of Science®Google Scholar James LM, Erickson JD, Mc Clearn AB. 1999. Prevalence of Birth Defects. Atlanta, GA: Division of Birth Defects and Developmental Disabilities, National Center for Environmental Health, Centers for Disease Control and Prevention. Google Scholar Kajbafzadeh AM, Tajik P, Payabvash S, Farzan S, Solhpour AR. 2006. Bladder exstrophy and epispadias complex in sibling: case report and review of literature. Pediatr Surg Int 22: 767–770. 10.1007/s00383-006-1741-5 PubMedWeb of Science®Google Scholar Karellas ME, Gatti JM, Murphy JP. 2005. Acute renal failure in a monozygotic twin presenting with cloacal exstrophy. J Urol 173: 230–231. 10.1097/01.ju.0000148422.02693.57 PubMedWeb of Science®Google Scholar Kilic N, Celayir S, Elicevik M, Sarimurat N, Soylet Y, Buyukunal C, Danismend N. 1999. Bladder augmentation: Urodynamic findings and clinical outcome in different augmentation techniques. Eur J Pediatr Surg 9: 29–32. 10.1055/s-2008-1072208 CASPubMedWeb of Science®Google Scholar Kosaki R, Fukuhara Y, Kosuga M, Okuyama T, Kawashima N, Honna T, Ueoka K, Kosaki K. 2005. OEIS complex with del(3)(q12.2q13.2). Am J Med Genet Part A 135A: 224–226. 10.1002/ajmg.a.30733 Web of Science®Google Scholar Lakshmanan Y, Bellin PB, Gilroy AM, Fung LC. 2001. Antenatally diagnosed cloacal exstrophy variant with intravesical phallus in a twin pregnancy. Urology 57: 1178. 10.1016/S0090-4295(01)01082-2 CASPubMedGoogle Scholar Langer JC, Brennan B, Lappalainen RE, Caco CC, Winthrop AL, Hollenberg RD, Paes BA. 1992. Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane. J Pediatr Surg 27: 1352–1355. 10.1016/0022-3468(92)90296-J CASPubMedWeb of Science®Google Scholar Lattimer JK, Smith MJ. 1966. Exstrophy closure: a followup on 70 cases. J Urol 95: 356–359. PubMedWeb of Science®Google Scholar Lee DH, Cottrell JR, Sanders RC, Meyers CM, Wulfsberg EA, Sun CC. 1999. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins. Am J Med Genet 84: 29–33. 10.1002/(SICI)1096-8628(19990507)84:1 3.0.CO;2-8 CASPubMedWeb of Science®Google Scholar Lowry RB, Baird PA. 1982. Familial gastroschisis and omphalocele. Am J Hum Genet 34: 517–518. CASPubMedWeb of Science®Google Scholar Ludwig M, Utsch B, Reutter H. 2005. Genetic and molecular biological aspects of the bladder exstrophy–epispadias complex (BEEC). Urol A 44: 1037–1044. 10.1007/s00120-005-0863-z CASPubMedWeb of Science®Google Scholar Marshall VF, Muecke EC. 1962. Variations in exstrophy of the bladder. J Urol 88: 766–796. 10.1016/S0022-5347(17)64883-3 Web of Science®Google Scholar Martin N, Boomsma D, Machin G. 1997. A twin-pronged attack on complex traits. Nat Genet 17: 387–392. 10.1038/ng1297-387 CASPubMedWeb of Science®Google Scholar Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias JL. 2001. Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect. Am J Med Genet 99: 261–269. 10.1002/ajmg.1210 CASPubMedWeb of Science®Google Scholar McLaughlin JF, Marks WM, Jones G. 1984. Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins. Am J Med Genet 19: 721–727. 10.1002/ajmg.1320190412 CASPubMedWeb of Science®Google Scholar Meizner I, Levy A, Barnhard Y. 1995. Cloacal exstrophy sequence: An exceptional ultrasound diagnosis. Obstet Gynecol 86: 446–450. 10.1016/0029-7844(95)00185-T CASPubMedWeb of Science®Google Scholar Messelink EJ, Aronson DC, Knuist M, Heij HA, Vos A. 1994. Four cases of bladder exstrophy in two families. J Med Genet 31: 490–492. 10.1136/jmg.31.6.490 CASPubMedWeb of Science®Google Scholar Monteiro J, Derom C, Vlietinck R, Kohn N, Lesser M, Gregersen PK. 1998. Commitment to X inactivation precedes the twinning event in monochorionic MZ twins. Am J Hum Genet 63: 339–346. 10.1086/301978 CASPubMedWeb of Science®Google Scholar Nance WE. 1981. Malformations unique to the twinning process. Prog Clin Biol Res 69A: 123–133. CASPubMedGoogle Scholar Neale MC, Cardon LR. 1992. Methodology for Genetic Studies of Twins and Families. Dordrecht, Boston, London: Kluwer Academic Publishers. 10.1007/978-94-015-8018-2 Web of Science®Google Scholar Neale MC, Eaves LJ, Kendler KS. 1994. The power of the classical twin study to resolve variation in threshold traits. Behav Genet 24: 239–258. 10.1007/BF01067191 CASPubMedWeb of Science®Google Scholar Noack F, Sayk F, Gembruch U. 2005. Omphalocoele-exstrophy-imperforate anus-spinal defects complex in dizygotic twins. Fetal Diagn Ther 20: 346–348. 10.1159/000086810 PubMedWeb of Science®Google Scholar Ornoy A, Navot D, Menashi M, Laufer N, Chemke J. 1980. Asymmetry and discordance for congenital anomalies in conjoined twins: A report of six cases. Teratology 22: 145–154. 10.1002/tera.1420220203 CASPubMedWeb of Science®Google Scholar Pinette MG, Pan YQ, Pinette SG, Stubblefield PG, Blackstone J. 1996. Prenatal diagnosis of fetal bladder and cloacal exstrophy by ultrasound. A report of three cases. J Reprod Med 41: 132–134. CASPubMedWeb of Science®Google Scholar Posthuma D, Boomsma DI. 2000. A note on the statistical power in extended twin designs. Behav Genet 30: 147–158. 10.1023/A:1001959306025 CASPubMedWeb of Science®Google Scholar Puck JM. 1998. The timing of twinning: More insights from X inactivation. Am J Hum Genet 63: 327–328. 10.1086/301988 CASPubMedWeb of Science®Google Scholar Redman JF, Seibert JJ, Page BC. 1981. Cloacal exstrophy in identical twins. Urology 17: 73–74. 10.1016/0090-4295(81)90017-0 CASPubMedWeb of Science®Google Scholar Reule GR, Ansell JS. 1967. Discordant occurrence of genitourinary defects in monozygotic twins. J Urol 97: 1078–1081. CASPubMedWeb of Science®Google Scholar Reutter H, Shapiro E, Gruen JR. 2003. Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. Am J Med Genet Part A 120A: 215–221. 10.1002/ajmg.a.20057 CASPubMedWeb of Science®Google Scholar Reutter H, Betz RC, Ludwig M, Boemers TM. 2006a. MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: Implications of a mutual genetic risk factor? Eur J Pediatr 165: 566–568. 10.1007/s00431-006-0116-1 PubMedWeb of Science®Google Scholar Reutter H, Thauvin-Robinet C, Boemers TM, Rösch WH, Ludwig M. 2006b. Bladder exstrophy–epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax (SET) as a candidate gene in a large cohort of patients. Scand J Urol Nephrol 40: 221–224. 10.1080/00365590600621204 CASPubMedWeb of Science®Google Scholar Reutter H, Becker T, Ludwig M, Schäfer N, Detlefsen B, Beaudoin S, Fisch M, Ebert AK, Rösch W, Nöthen MM, Boemers TM, Betz RC. 2006c. Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy–epispadias-complex. Am J Med Genet Part A 140A: 2506–2509. 10.1002/ajmg.a.31484 CASWeb of Science®Google Scholar Risch N. 1990. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46: 222–228. CASPubMedWeb of Science®Google Scholar Risch N. 2001. The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol Biomarkers Prev 10: 733–741. CASPubMedWeb of Science®Google Scholar Schinzel AA, Smith DW, Miller JR. 1979. Monozygotic twinning and structural defects. J Pediatr 95: 921–930. 10.1016/S0022-3476(79)80278-4 CASPubMedWeb of Science®Google Scholar Shapiro E, Lepor H, Jeffs RD. 1984. The inheritance of the exstrophy–epispadias complex. J Urol 132: 308–310. 10.1016/S0022-5347(17)49605-4 CASPubMedWeb of Science®Google Scholar Sommer IE, Ramsey NF, Mandl RC, Kahn RS. 2002. Language lateralization in monozygotic twin pairs concordant and discordant for handedness. Brain 125: 2710–2718. 10.1093/brain/awf284 CASPubMedWeb of Science®Google Scholar Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. 2004. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet Part A 126A: 303–307. 10.1002/ajmg.a.20596 CASPubMedWeb of Science®Google Scholar Timor-Tritsch IE, Monteagudo A, Horan C, Stangel JJ. 2000. Dichorionic triplet pregnancy with the monoamniotic twin pair concordant for omphalocele and bladder exstrophy. Ultrasound Obstet Gynecol 16: 669–671. 10.1046/j.1469-0705.2000.00281.x CASPubMedWeb of Science®Google Scholar Turner WR Jr, Ransley PG, Bloom DA, Williams DI. 1980. Variants of the exstrophic complex. Urol Clin North Am 7: 493–501. PubMedWeb of Science®Google Scholar Uson AC, Lattimer JK, Melicow MM. 1959. Types of exstrophy of urinary bladder and concomitant malformations; a report based on 82 cases. Pediatrics 23: 927–934. CASPubMedWeb of Science®Google Scholar Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB. 2006. Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause? Am J Med Genet Part A 140A: 2251–2253. 10.1002/ajmg.a.31454 Web of Science®Google Scholar Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F. 1999. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398: 714–718. 10.1038/19539 CASPubMedWeb of Science®Google Scholar Citing Literature Volume143A, Issue2215 November 2007Pages 2751-2756 ReferencesRelatedInformation

Referência(s)