Molecular Biology Reports

, Volume 37, Issue 1, pp 359–362

Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome

Article

DOI: 10.1007/s11033-009-9782-1

Cite this article as:
Li, J., Wang, J., Liu, Y. et al. Mol Biol Rep (2010) 37: 359. doi:10.1007/s11033-009-9782-1

Abstract

Abnormalities in sonic hedgehog (SHH) signaling pathway components are major contributing factors in the development of nevoid basal cell carcinoma syndromes (NBCCS) that include SHH, PTCH, SMO and GLI. The novel patched homologue (PTCH) mutation and clinical manifestations with NBCCS links PTCH haplosufficiency and aberrant activation of the sonic hedgehog/Patched/smoothened pathway. To investigate further the molecular genetics of NBCCS, we performed mutation analysis of PTCH gene in a family case with five affected members. These clinical manifestations might be associated with a novel constitutional mutation of the PTCH gene, 3146A → T (1049N → I), in exon 17. The analyzed results of tumor tissue show a high expression of GLI. Our findings suggested that the mutation of 3146A → T may be the cause of high expression of GLI and permit SMO to transmit signal to the nucleus through SHH/PTCH/SMO pathway.

Keywords

NBCCS PTCH GLI 

Copyright information

© China Government 2009

Authors and Affiliations

  1. 1.Department of Oral Maxillofacial Surgery, School of StomatologyHarbin Medical UniversityHarbinChina
  2. 2.Department of Clinical LaboratoryThe Second Affiliated Hospital, Harbin Medical UniversityHarbinChina
  3. 3.Department of Pediatric Dentisty, School of StomatologyHarbin Medical UniversityHarbinChina

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