Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT

  • Authors:
    • Vesna Musani
    • Philippe Gorry
    • Aleksandra Basta-Juzbasic
    • Tonci Stipic
    • Pavle Miklic
    • Sonja Levanat
  • View Affiliations

  • Published online on: May 1, 2006     https://doi.org/10.3892/ijmm.17.5.755
  • Pages: 755-759
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Abstract

The novel PTCH mutation and clinical manifestations within Gorlin syndrome family links PTCH haploinsufficiency and aberrant activation of the Wnt pathway. We report a family case with Gorlin syndrome, characterized by the usual phenotype features such as widespread basocellular tumors and craniofacial and bone malformations, but also including a less common appearance of craniopharyngioma. These clinical manifestations might be associated with a novel constitutional mutation of the PTCH gene, 1047insAGAA, which we found in exon 7. It changes the normal amino acid sequence leading to termination of the PTCH protein at exon 9. The analyzed tumors of the family show extensive loss of heterozygosity in the PTCH region, both basocellular and in particular craniopharyngioma, and in the latter a high expression of β-catenin was detected. Our findings suggest involvement of the SHH/PTCH/SMO pathway in pathogenesis of the analyzed disorders, including its possible contribution to aberrant activation of the Wnt pathway in craniopharyngioma.

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May 2006
Volume 17 Issue 5

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Musani V, Gorry P, Basta-Juzbasic A, Stipic T, Miklic P and Levanat S: Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT. Int J Mol Med 17: 755-759, 2006.
APA
Musani, V., Gorry, P., Basta-Juzbasic, A., Stipic, T., Miklic, P., & Levanat, S. (2006). Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT. International Journal of Molecular Medicine, 17, 755-759. https://doi.org/10.3892/ijmm.17.5.755
MLA
Musani, V., Gorry, P., Basta-Juzbasic, A., Stipic, T., Miklic, P., Levanat, S."Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT". International Journal of Molecular Medicine 17.5 (2006): 755-759.
Chicago
Musani, V., Gorry, P., Basta-Juzbasic, A., Stipic, T., Miklic, P., Levanat, S."Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT". International Journal of Molecular Medicine 17, no. 5 (2006): 755-759. https://doi.org/10.3892/ijmm.17.5.755