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GENATLAS PHENOTYPE
last update : 05-12-2012
Symbol DEL9Q22
Location 9q22.31
Name chromosome 9q22.3 microdeletion syndrome
Corresponding gene PTCH1 , ROR2 , FANCC
Main clinical features
  • clinical findings of basal cell nevus syndrome (BCNS : Gorlin syndrome),
  • developmental delay and/or intellectual disability, metopic craniosynostosis, obstructive hydrocephalus, pre- and postnatal macrosomia, and seizures which are not typically observed in BCNS, PMID: 22190277
  • diagnosis of Gorlin syndrome is difficult in infancy because several major traits usually appear after puberty
  • none of the patients has features of Robinow syndrome nor brachydactyly type 1
  • increased risk of Wilms tumor, PMID: 23169491
    • Genetic determination chromosomal
    Related entries NBCCS
    Function/system disorder multisystem/generalized
    mental retardation
    neoplasia
    Type MCA/MR
    Gene product
    Name numerous genes deleted
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency very variable size with an overlapping region of 5mb between 92.7 and 97.7Mb including both ROR2 and PTCH
      deletion haploinsufficiency The minimal critical region is 352 kb, and includes PTCH1 and FANCC.PMID: 21850767
    Remark(s) deletions encompass numerous genes, including PTCH causative for Gorlin syndrome and ROR2, a cell surface receptor, whose mutations are responsible for Robinow syndrome and brachydactyly type 1B ; familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features PMID: 21567912 . PMID: 21850767 ; these were a 929kb region for metopic craniosynostosis, a 1.08Mb region for obstructive hydrocephalus, and a 1.84Mb region for macrosomia, PMID: 22190277;;
    Genotype/Phenotype correlations early recognition of BCNS is important to prevent neoplasia ; overgrowth and loss of paternal allele in 5/23 patients having a 9q22 deletion ; patients with constitutional 9q22.3 microdeletion have an increased risk of WT, PTCH1 may have a role in the pathogenesis of nephroblastomas,PMID:23169491..