Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca

Pediatric Surgery International

Volumn 24, Issue 8, 2008, Pages 893-897

  Krüger, Victoria ^a   Khoshvaghti, Mercedeh ^a   Reutter, Heiko ^a   Vogt, Hannes ^b   Boemers, Thomas M ^b   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Children's Hospital   (Germany)

Author keywords

Anorectal malformations; Bladder exstrophy epispadias complex; FGF10 gene; Gene analysis

Indexed keywords

FIBROBLAST GROWTH FACTOR 10;

ANORECTAL MALFORMATION; ARTICLE; BLADDER EXSTROPHY; CLOACA; GENE MUTATION; GENOMICS; HUMAN; PHENOTYPE; PRIORITY JOURNAL; WILD TYPE;

ABNORMALITIES, MULTIPLE; ALLELES; ANAL CANAL; BLADDER EXSTROPHY; CLOACA; DIGESTIVE SYSTEM ABNORMALITIES; DNA; FIBROBLAST GROWTH FACTOR 10; GENE FREQUENCY; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; RECTUM;

EID: 48549094808     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00383-008-2193-x     Document Type: Article

References (31)

1. TM Boemers 2002 Urinary incontinence and vesicourethral dysfunction in pediatric surgical conditions Semin Pediatr Surg 11 91 99 10.1053/spsu.2002. 31807
2. ED Smith 1987 The bath water needs changing, but don't throw out the baby: an overview of anorectal malformations J Pediatr Surg 22 335 348 10.1016/S0022-3468(87)80236-1
3. FD Stephens ED Smith 1986 Classification, identification, and assessment of surgical treatment of anorectal anomalies Pediatr Surg Int 1 200 205 10.1007/BF00177146
4. C Stoll Y Alembik B Dott MP Roth 2007 Associated malformations in patients with anorectal anomalies Eur J Med Genet 50 281 290 10.1016/j.ejmg.2007.04.002
5. JC Carey 2001 Exstrophy of the cloaca and the OEIS complex: one and the same Am J Med Genet 99 270 10.1002/ajmg.1211
6. Gearhart JP, Jeffs RD (1998) Exstrophy-epispadias complex and bladder anomalies. In: Walsh PC, Retnik AB, Vaughan ED, Wein AJ (eds) Campell's urology, 7th edn. WB Saunders, Philadelphia, pp 1939-1990
7. SA Boyadjiev JL Dodson CL Radford 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
8. GR Boocock D Donnai 1987 Anorectal malformation: familial aspects and associated anomalies Arch Dis Child 62 576 579
9. A Cuschieri 2001 Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe Am J Med Genet 103 207 215 10.1002/ajmg.1532
10. RA Falcone Jr MA Levitt A Peña M Bates 2007 Increased heritability of certain types of anorectal malformations J Pediatr Surg 42 124 128 10.1016/j.jpedsurg.2006.09.012
11. RC Anderson SC Reed 1954 The likelihood of recurrence of congenital malformations J Lancet 74 175 176
12. E Shapiro H Lepor RD Jeffs 1984 The inheritance of the exstrophy-epispadias complex J Urol 132 308 310
13. H Reutter L Qi JP Gerhart 2007 Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology Am J Med Genet A 143A 2751 2756 10.1002/ajmg.a.31975
14. S Bagai E Rubio JF Cheng 2002 Fibroblast growth factor-10 is a mitogen for urothelial cells J Biol Chem 277 23828 23837 10.1074/jbc.M201658200
15. TJ Fairbanks S DeLanghe FG Sala 2004 Fibroblast growth factor 10 (Fgf10) invalidation results in anorectal malformation in mice J Pediatr Surg 39 360 365 10.1016/j.jpedsurg.2003.11.034
16. S Yucel W Liu D Cordero A Donjacour G Cunha LS Baskin 2004 Anatomical studies of the fibroblast growth factor-10 mutant, Sonic Hedge Hog mutant and androgen receptor mutant mouse genital tubercle Adv Exp Med Biol 545 123 148
17. K Sekine H Ohuchi M Fujiwara 1999 Fgf10 is essential for limb and lung formation Nat Genet 21 138 141 10.1038/5096
18. M Entesarian H Matsson J Klar 2005 Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands Nat Genet 37 125 127 10.1038/ng1507
19. M Entesarian J Dahlqvist V Shashi 2007 FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG) Eur J Hum Genet 15 379 382 10.1038/sj.ejhg.5201762
20. E Rohmann HG Brunner H Kayserili 2006 Mutations in different components of FGF signaling in LADD syndrome Nat Genet 38 414 417 10.1038/ng1757
21. JM Milunsky G Zhao TA Maher R Colby DB Everman 2006 LADD syndrome is caused by FGF10 mutations Clin Genet 69 349 354 10.1111/j.1399-0004.2006.00597.x
22. TJ David SE O'Callaghan 1974 Birth defects and oral hormone preparations Lancet 1 1236 10.1016/S0140-6736(74)91058-7
23. TA Ince AP Cviko BJ Quade 2002 p63 coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract Am J Pathol 161 1111 1117
24. W Cheng WB Jacobs JJR Zhang 2006 ΔNp63 plays an anti-apoptotic role in ventral bladder development Development 133 4783 4792 10.1242/dev.02621
25. Ching BJ, Ludwig M, Reutter H, Nauta C, Gearhart JP, Boyadjiev SA (2007) Potential role of p63 in human bladder exstrophy. In: 57th annual meeting of The American Society of human genetics (ASHG), San Diego, California, USA, 2007, p 478 (abstr)
26. R Mo JH Kim J Zhang C Chiang CC Hui PCW Kim 2001 Anorectal malformations caused by defects in sonic hedgehog signaling Am J Pathol 159 765 774
27. SW Moore MG Zaahl 2007 Association of endothelin-β receptor (EDNRB) gene variants in anorectal malformations J Pediatr Surg 42 1266 1270 10.1016/j.jpedsurg.2007.02.019
28. JH Kim PCW Kim CC Hui 2001 The VACTERL association: lessons from the Sonic hedgehog pathway Clin Genet 59 306 315 10.1034/j.1399-0004.2001.590503.x
29. T Rinne HG Brunner H van Bockhoven 2007 p63-associated disorders Cell Cycle 6 262 268
30. Ornitz DM, Itoh N (2001) Fibroblast growth factors. Genome Biol 2:REVIEWS3005
31. SM Mirkin 2007 Expandable DNA repeats and human disease Nature 447 932 940 10.1038/nature05977