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GENATLAS PHENOTYPE
last update : 23-01-2013
Symbol DUP6PM
Location 6p21.1
Name chromosome 6p21p22 duplication, medial
Corresponding gene RUNX2
Main clinical features
  • psychomotor retardation, mild dysmorphic features and behavioral disturbances associated with epilepsy
  • a 1.1 Mb duplication encompassing RUNX2 in two affected cousins with metopic synostosis and hypodontia
  • dup 6 p12.3p21.1, presenting with facial anomalies, psychomotor delay, recurrent respiratory tract infections, craniosynostosis and abnormal dentition , PMID: 23307468
    • Genetic determination chromosomal
    Prevalence very rare
    Function/system disorder
    Type MCA/MR
    Gene product
    Name RUNX2 is required as a master switch for osteoblast differentiation and interacts with TWIST1, mutations in which also cause craniosynostosis
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   7.3 Mb in size with epilepsy possibly due to the GABBR1, BRD2 or GRM4 genes
      duplication   a 1.1 Mb duplication encompassing RUNX2 in two affected cousins with metopic synostosis and hypodontia
    Remark(s)