Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation

Journal of Pediatric Surgery

Volumn 42, Issue 4, 2007, Pages 725-731

  Shimotake, Takashi ^a   Tanaka, Shin ichiro ^a   Fukui, Rui ^a   Makino, Shigeru ^a   Maruyama, Rikken ^a  

^a KYOTO UNIVERSITY   (Japan)

Author keywords

Hirschsprung's disease; Neuroglia; SOX10; Waardenburg syndrome

Indexed keywords

DNA BINDING PROTEIN; GENOMIC DNA; HIGH MOBILITY GROUP PROTEIN; TRANSCRIPTION FACTOR SOX10;

ARTICLE; BRAIN DISEASE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHROMOSOME 22Q; DISEASE COURSE; DNA SEQUENCE; GENE MUTATION; GLIA; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; ILEOSTOMY; INTESTINE INNERVATION; INTESTINE MOTILITY; MALE; NERVE CONDUCTION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PERIPHERAL NERVOUS SYSTEM; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PULL THROUGH OPERATION; TREATMENT OUTCOME; WAARDENBURG SYNDROME;

BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ENTERIC NERVOUS SYSTEM; EXONS; HIGH MOBILITY GROUP PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MENTAL RETARDATION; MUTATION; NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 34247143339     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2006.12.003     Document Type: Article

References (23)

1. Swenson O., Rheinlander H.F., and Diamond I. Hirschsprung's disease: a new concept of the etiology-operative results in thirty four cases. N Engl J Med 241 (1949) 551-556
2. Coran A.G., and Teitelbaum D.H. Recent advances in the management of Hirschsprung's disease. Am J Surg 180 (2000) 382-387
3. Fouquet V., De Lagausie P., Faure C., et al. Do prognostic factors exist for total colonic aganglionosis with ileal involvement?. J Pediatr Surg 37 (2002) 71-75
4. Martin L.W. Surgical management of Hirschsprung's disease involving the small intestine. Arch Surg 97 (1968) 183-189
5. Shah K.N., Dalal S.J., Desai M.P., et al. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 97 (1981) 183-189
6. Pingault V., Bondurand N., Kuhlbrodt K., et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18 (1998) 171-173
7. Avaria M.L., Mills J.L., Kleinsteuber K., et al. Peripheral nerve conduction abnormalities in children exposed to alcohol in utero. J Pediatr 144 (2004) 338-343
8. Hsu S.M., Raine L., and Fanger H. Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 29 (1981) 577-580
9. Kuhlbrodt K., Schmidt C., Sock E., et al. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 273 (1998) 23033-23038
10. Jacobs-Cohen R.J., Payette R.F., Gershon M.D., et al. Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment. J Comp Neurol 255 (1987) 425-438
11. Inoue K., Shimotake T., and Iwai N. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement. Am J Med Genet 93 (2000) 278-284
12. Chan J.R., Cosgaya J.M., Wu Y.J., et al. Neurotrophins are key mediators of the myelination program in the peripheral nervous system. Proc Natl Acad Sci U S A 98 (2001) 14661-14668
13. Sonnenberg-Riethmacher E., Miehe M., Stolt C.C., et al. Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10. Mech Dev 109 (2001) 253-265
14. Lang D., and Epstein J.A. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 12 (2003) 937-945
15. Kim J., Lo L., Dormand E., et al. SOX10 maintains multipotency and inhibits neuronal differentiation of neural crest stem cells. Neuron 38 (2003) 17-31
16. Mollaaghababa R., and Pavan W.J. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene 22 (2003) 3024-3034
17. Sham M.H., Lui V.C., Fu M., et al. SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants. Gut 49 (2001) 220-226
18. Bondurand N., Girard M., Pingault V., et al. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 10 (2001) 2783-2795
19. Nagy E., and Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23 (1998) 198-199
20. Carter M.S., Li S., and Wilkinson M.R. A splicing-dependent regulatory mechanism that detects translation signals. EMBO J 15 (1996) 5965-5975
21. Inoue K., Khajavi M., Ohyama T., et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36 (2004) 361-369
22. Bush T.G., Savidge T.C., Freeman T.C., et al. Fulminant jejuno-ileitis following ablation of enteric glia in adult transgenic mice. Cell 93 (1998) 189-201
23. Rothstein J.D., Dykes-Hoberg M., Pardo C.A., et al. Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate. Neuron 16 (1996) 675-686