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GENATLAS PHENOTYPE
last update : 11-10-2016
Symbol NBCCS2
Location 9q22.32
Name nevoid basal cell carcinoma syndrome
Other name(s)
  • basal cell nevus syndrome,
  • Gorlin syndrome,
  • Gorlin-Goltz syndrome,
  • multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
  • fifth phacomatosis
    • Corresponding gene PTCH1
    Other symbol(s) BCNS
    Main clinical features
  • agenesis of corpus callosum
  • in infancy typical congenital skeletal malformations of spine, ribs and craniofacial morphology should lead to suspicion of BCNS
  • several major pathognomonic signs as BCC, jaw cysts, palmar and plantar pits, calcification of the fax cerebri and ovarian fibromas are age-dependant and usually develop after puberty
  • associated or not with primitive neuroectodermal tumors of central nervous system (with medulloblastoma), see TSG9D
    • Genetic determination autosomal dominant
    Related entries DEL9Q22
    Function/system disorder dermatology
    Type malignancy
    Gene product
    Name Drosophila patched homolog (PTCH); SHH signalling pathway
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency disrupting sterol-sensing domain, and leading to aberrant activation of the WNT pathway
      deletion haploinsufficiency interstitial deletion of 9q including PTCH gene
    various types      
    Remark(s)
  • reported PTCH1 mutation rate ranges from 40 to 80 p100; mutated in hereditary and sporadic cases
  • other genes from the SHH signalling pathway may be implicated, see SMO and PTCH2
    • Genotype/Phenotype correlations
  • mutation 1047insAGAA, in exon 7 changes the normal amino acid sequence leading to termination of the PTCH protein at exon 9
  • associated with both basocellular and in particular craniopharyngioma