Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome

Journal of Pediatric Surgery

Volumn 40, Issue 9, 2005, Pages 1411-1419

  Ishihara, Naoko ^a   Shimada, Atsuyoshi ^b   Kato, Junji ^c   Niimi, Norihiro ^c   Tanaka, Shuichi ^c   Miura, Kiyokuni ^c   Suzuki, Tatsuya ^d   Wakamatsu, Nobuaki ^b   Nagaya, Masahiro ^c  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^c INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^d NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

Aganglionosis; Hirschsprung disease; Morphometry; Mowat Wilson syndrome; ZFHX1B

Indexed keywords

HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER HOMEOBOX PROTEIN 1B; ZINC FINGER PROTEIN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DUHAMEL OPERATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE INNERVATION; INTESTINE SURGERY; MALE; MORPHOMETRICS; MOWAT WILSON SYNDROME; MYENTERIC PLEXUS; PATHOLOGY; PRIORITY JOURNAL; SURGICAL TECHNIQUE;

ANTHROPOMETRY; CHILD, PRESCHOOL; COLON, SIGMOID; FEMALE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; RECTUM; REPRESSOR PROTEINS;

EID: 24344509187     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2005.05.040     Document Type: Article

References (29)

1. W.A. Meier-Ruge Hirschsprung's disease: its aetiology, pathogenesis and differential diagnosis Curr Top Pathol 59 1974 131 179
2. A.C. Weinberg Hirschsprung's disease-a pathologist's view Perspect Pediatr Pathol 2 1975 456
3. P. Edery, S. Lyonnet, and L.M. Mulligan Mutations of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 378 380
4. G. Romeo, P. Ronchetto, and Y. Luo Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease Nature 367 1994 377 378
5. E.G. Puffenberger, K. Hosoda, and S.S. Washington A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease Cell 79 1994 1257 1266
6. M. Angrist, S. Bolk, and M. Halushka Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient Nat Genet 14 1996 341 344
7. R. Salomon, T. Attie, and A. Pelet Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease Nat Genet 14 1996 145 147
8. P. Edery, T. Attie, and J. Amiel Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) Nat Genet 12 1996 442 444
9. R.M. Hofstra, J. Osinga, and G. Tan-Sindhunata A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) Nat Genet 12 1996 445 447
10. V. Pingault, N. Bondurand, and K. Kuhlbrodt SOX10 mutations in patients with Waardenburg-Hirschsprung disease Nat Genet 18 1998 171 173
11. R.M. Hofstra, O. Valdenaire, and E. Arch A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction Am J Hum Genet 64 1999 304 308
12. J. Amiel, B. Laudier, and T. Attie-Bitach Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome Nat Genet 33 2003 459 460
13. N. Wakamatsu, Y. Yamada, and K. Yamada Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease Nat Genet 27 2001 369 370
14. V. Cacheux, F. Dastot-Le Moal, and H. Kaariainen Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease Hum Mol Genet 10 2001 1503 1510
15. M. Nagaya, J. Kato, and N. Niimi Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality J Pediatr Surg 37 2002 1117 1122
16. K. Yamada, Y. Yamada, and N. Nomura Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features Am J Hum Genet 69 2001 1178 1185
17. M. Wilson, D. Mowat, and F. Dastot-Le Moal Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B Am J Med Genet 119A 2003 257 265
18. M. Yoneda, T. Fujita, and Y. Yamada Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B Neurology 59 2002 1637 1640
19. C. Zweier, B. Albrecht, and B. Mitulla "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene Am J Med Genet 108 2002 177 181
20. C. Zweier, I.K. Temple, and F. Beemer Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome J Med Genet 40 2003 601 605
21. J. Amiel, Y. Espinosa-Parrilla, and J. Steffann Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures Am J Hum Genet 69 2001 1178 1185
22. L. Garavelli, A. Donadio, and C. Zanacca Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome Am J Med Genet 116A 2003 385 388
23. D.R. Mowat, G.D. Croaker, and D.T. Cass Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 J Med Genet 35 1998 617 623
24. W.A. Meier-Ruge, and L.A. Brunner Morphometric assessment of Hirschsprung's disease: associated hypoganglionosis of the colonic myenteric plexus Pediatr Dev Pathol 4 2001 53 61
25. W.A. Meier-Ruge, L.A. Brunner, and J. Engert A correlative morphometric and clinical investigation of hypoganglionosis of the colon in children Eur J Pediatr Surg 9 1999 67 74
26. T. Van de Putte, M. Maruhashi, and A. Francis Mice lacking Zfhx1b, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome Am J Hum Genet 72 2003 465 470
27. D.R. Mowat, M.J. Wilson, and M. Goossens Mowat-Wilson syndrome J Med Genet 40 2003 305 310
28. W.A. Meier-Ruge, and A.M. Holschneider Histopathologic observations of anorectal abnormalities in anal atresia Pediatr Surg Int 16 2000 2 7
29. E. Okamoto, and A. Toyosaka Pseudo-Hirschsprung's disease: research on the pathophysiology, diagnosis and treatment E. Okamoto A. Toyosaka Pseudo-Hirschsprung's disease: it's definition, denomination, classification, diagnosis and treatment 1996 Nagai Shoten Osaka 17 25