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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
Hum Genet. 2002 Aug; 111(2):198-206.HG

Abstract

The type IV Waardenburg syndrome (WS4), also referred to as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung disease, is characterised by the association of Waardenburg features (WS, depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Mutations in the EDN3, EDNRB, and SOX10 genes have been reported in this syndrome. Recently, a new SOX10 mutation was observed in a girl with a neural crest disorder without evidence of depigmentation, but with severe constipation due to a chronic intestinal pseudo-obstruction and persistence of enteric ganglia. To refine the nosology of WS, we studied patients with typical WS4 (including Hirschsprung disease) or with WS and intestinal pseudo-obstruction. We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features. These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations.

Authors+Show Affiliations

INSERM U468, Génétique Moléculaire et Physiopathologie, and Laboratoire de Biochimie, Hôpital Henri Mondor, 94010 Créteil Cedex, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12189494

Citation

Pingault, Véronique, et al. "SOX10 Mutations in Chronic Intestinal Pseudo-obstruction Suggest a Complex Physiopathological Mechanism." Human Genetics, vol. 111, no. 2, 2002, pp. 198-206.
Pingault V, Girard M, Bondurand N, et al. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet. 2002;111(2):198-206.
Pingault, V., Girard, M., Bondurand, N., Dorkins, H., Van Maldergem, L., Mowat, D., Shimotake, T., Verma, I., Baumann, C., & Goossens, M. (2002). SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Human Genetics, 111(2), 198-206.
Pingault V, et al. SOX10 Mutations in Chronic Intestinal Pseudo-obstruction Suggest a Complex Physiopathological Mechanism. Hum Genet. 2002;111(2):198-206. PubMed PMID: 12189494.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. AU - Pingault,Véronique, AU - Girard,Mathilde, AU - Bondurand,Nadège, AU - Dorkins,Huw, AU - Van Maldergem,Lionel, AU - Mowat,David, AU - Shimotake,Takashi, AU - Verma,Ishwar, AU - Baumann,Clarisse, AU - Goossens,Michel, Y1 - 2002/07/06/ PY - 2002/02/18/received PY - 2002/05/07/accepted PY - 2002/8/22/pubmed PY - 2002/11/26/medline PY - 2002/8/22/entrez SP - 198 EP - 206 JF - Human genetics JO - Hum Genet VL - 111 IS - 2 N2 - The type IV Waardenburg syndrome (WS4), also referred to as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung disease, is characterised by the association of Waardenburg features (WS, depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Mutations in the EDN3, EDNRB, and SOX10 genes have been reported in this syndrome. Recently, a new SOX10 mutation was observed in a girl with a neural crest disorder without evidence of depigmentation, but with severe constipation due to a chronic intestinal pseudo-obstruction and persistence of enteric ganglia. To refine the nosology of WS, we studied patients with typical WS4 (including Hirschsprung disease) or with WS and intestinal pseudo-obstruction. We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features. These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/12189494/SOX10_mutations_in_chronic_intestinal_pseudo_obstruction_suggest_a_complex_physiopathological_mechanism_ L2 - https://dx.doi.org/10.1007/s00439-002-0765-8 DB - PRIME DP - Unbound Medicine ER -