Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC);Genetische und molekularbiologische aspekte des blasenekstrophie-epispadie- komplexes (BEEK)

Urologe - Ausgabe A

Volumn 44, Issue 9, 2005, Pages 1037-1044

  Ludwig, M ^a   Utsch, B ^b   Reutter, H ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Animal models; Bladder exstrophy; Epispadias; Etiology; Gene

Indexed keywords

BLADDER EXSTROPHY; BLADDER EXSTROPHY EPISPADIAS COMPLEX; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; EPISPADIAS; GENE EXPRESSION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC DISORDER; HEREDITY; HUMAN; INHERITANCE; LINKAGE ANALYSIS; PHENOTYPE; RECURRENCE RISK; REVIEW; UROGENITAL TRACT MALFORMATION;

BLADDER EXSTROPHY; EPISPADIAS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INCIDENCE; MOLECULAR BIOLOGY; PREVALENCE; RISK ASSESSMENT; RISK FACTORS;

EID: 24944551205     PISSN: 03402592     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00120-005-0863-z     Document Type: Review

References (30)

1. Beaudoin S, Barbet P, Bargy F (2004) Pelvic development in the rabbit embryo: implications in the organogenesis of bladder exstrophy. Anat Embryol 208: 425-430
2. Bruch SW, Adzick NS, Goldstein RB, Harrison MR (1996) Challenging the embryogenesis of cloacal exstrophy. J Pediatr Surg 31: 768-770
3. Carey JC (2001) Exstrophy of the cloaca and the OEIS complex: one and the same. Am J Med Genet 99: 270
4. Chipail A, Constantinescu V, Covic M, Angheloni T (1976) Phenotypic and cytogenetic analysis of a particular malformative syndrome (trisomy 9 p+). Pediatria 25: 201-210
5. Gearhart JP, Boyd T, Dodson S et al. (2004) Clinical and molecular characterization of the bladder exstrophy-epispadias complex. In: Fitzpatrick J (ed) XV ESPU. BJU Int 93: 36
6. Geoffroy-Saint-Hilairel (1832) Histoire générale et particulière des anomalies de organisation chez Homme et les animaux, ouvrage comprenant des recherches sur les caractères, la classification, influence physiologique et pathologique, les rapports généraux, les lois et les causes des monstruosités, des variétés et vices de conformation, ou Traité de tératologie, vol 1. Bailliére, Paris, pp 387-391
7. Husmann DA, Vandersteen DR. (1999) Anatomy of the cloacal exstrophy. In: Gearhard JP, Matthews R (eds) The epispadias-exstrophy complex. Kluwer Academic/Plenum Publishers, New York, pp 199-206
8. International Clearinghouse for Birth Defects Monitoring Systems (1987) Epidemiology of bladder exstrophy and epispadias: a communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology 36: 221-227
9. Ives E, Coffey R, Carter CO (1980) A family study of bladder exstrophy. J Med Genet 17: 139-141
10. Jain M, Weaver DD (2004) Severe lower limb defects in exstrophy of the cloaca. Am J Med Genet A 128: 320-324
11. James LM, Erickson JD, Mc Clearn AB (1999) Prevalence of birth defects. Division of Birth Defects and Developmental Disabilities; National Center for Enviromental Health; Centers for Disease Control and Prevention, Atlanta, Georgia
12. Källén K, Castilla EE, Robert E et al. (2000) OEIS complex - a population study. Am J Med Genet 92: 62-68
13. Keppler-Noreuil KM (2001) OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): A review of 14 cases. Am J Med Genet 99: 271-279
14. Leonard NJ, Tomkins DJ (2002) Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry. Am J Med Genet 112:86-90
15. Lin HJ, Ndiforchu F, Patell S (1993) Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients. Am J Med Genet 45: 761-763
16. Lowry RB, Baird PA (1982) Familial gastroschisis and omphalocele. Am J Hum Genet 34: 517-518
17. Männer J, Kluth D (2003) A chicken model to study the embryology of cloacal exstrophy. J Pediatr Surg 38: 678-681
18. Marshall VF (1978) Embryology of the lower genitourinary tract. Urol Clin North Am 5: 3-15
19. 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
20. Messelink EJ, Aronson DC, Knuist M et al. (1994) Four cases of bladder exstrophy in two families. J Med Genet 31: 490-492
21. Muecke EC (1964) The role of the cloacal membrane in exstrophy: the first successful experimental study. J Urol 92: 659-667
22. Prescott NJ, Lees MM, Winter RM, Malcolm S (2000) Identification of susceptibility loci for non-syndromic cleft lip with or without cleft palate in a two stage genome scan of affected sibs. Hum Genet 106: 345-350
23. Raboch J (1975) Incidence of hypospadia and epispadia in chromatin-positive men. Andrologia 7: 237-239
24. 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 A 120: 215-221
25. Risch N (1987) Assesing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet 40:1-14
26. Shapiro E, Lepor H, Jeffs RD (1984) The inheritance of the exstrophy-epispadias complex. J Urol 132: 308-310
27. Thauvin-Robinet C, Faivre L, Cusin V et al. (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 A 126: 303-307
28. Utsch B, Albers N, Ludwig M (2004) Genetic and molecular aspects of hypospadias. Eur J Pediatr Surg 14: 297-302
29. Von Degenhardt KH (1964) Mißbildungen des Beckens. In Becker PE: Humangenetik. Ein kurzes Handbuch in 5 Bändern, Bd. II. Thieme, Stuttgart, S 629-630
30. Zucchero TM, Cooper ME, Maher BS, Daak-Hirsch et al. (2004) Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351: 769-780