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GENATLAS PHENOTYPE
last update : 14-10-2015
Symbol DEL5Q14
Location 5q14.3
Name chromosome 5q deletion, proximal
Other name(s) chromosome 5q14.3 deletion syndrome, periventricular nodular heterotopia (MIM 612881)
Corresponding gene MEF2C
Other symbol(s) DEL5QP, PVNH5, MRD20
Main clinical features
  • periventricular heterotopia, mental retardation, and epilepsy
  • severe mental retardation with absent speech, hypotonia and stereotypic movements
  • epilepsy or febrile seizures, and variable brain anomalies
  • facial dysmorphism: hypotonia, strabismus, prominent philtrum with cupid's bow
  • (PMID: 20513142,, PMID: 19592390,, PMID: 20333642,, PMID: 20412115))
  • Genetic determination chromosomal
    Function/system disorder neurology
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency common deleted region spanning 5.8 Mb and containing 14 candidate genes at 5q14.3q15 in 3 patients
      deletion haploinsufficiency overlapping deletion of 1.6 Mb in three patients including 5 genes
      deletion haploinsufficiency minimal common deleted region of five 5q14 microdeletions encompassing only MEF2C
    nonsense   haploinsufficiency  
    Remark(s) GPR98/MASS1 is a candidate gene for epilepsy, LYSMD3 for other CNS symptoms
    Genotype/Phenotype correlations larger deletion of at least 21 MB associated with a mild phenotype PMID: 2156793; 5q14.3 neurocutaneous syndrome caused by simultaneous deletion of RASA1 and MEF2C PMID: 21626678;;