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GENATLAS PHENOTYPE
last update : 31-01-2024
Symbol CES
Location 22q11.1
Name cat eye syndrome
Other name(s) proximal 22q tetrasomy or trisomy
Corresponding gene ADA2 , CECR2
Other symbol(s) CES, inv dup(22), idic(22)
Main clinical features
  • ocular coloboma, anal atresia, heart defects (total anomalous pulmonary venous return,TAPRV), urogenital defects, preauricular skin tags and pits, facial dysmorphism (hypertelorism and downslanting palpebral features)
  • mild to moderate mental retardation in 1/3 of patients
  • extremely variable frequency and severity of these features, including ocular coloboma
    • Genetic determination chromosomal
    genomic disorder
    Related entries DUP22Q11, DER22S
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Gene product
    Name . contiguous gene syndrome . CECR2 is a protein involved in neurulation forming a chromatin remodeling complex with SNF2L
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      supernumerary abnormal chromosome over-expression typical chromosomal rearrangement is a supernumerary isodicentric bisatellited chromosome containing two extra copies of the 22q11.2q11.2 region, sometimes mosaic
      duplication   interstitial duplication of 22q11 including the CES region adjacent to the centromere (IL17R and BID genes included)
      mosaicism   Inherited mosaicism for the supernumerary marker chromosome with inter- and intra-individual variation and correlation to the phenotype PMID: 22495764
    Remark(s) genomic disorder resulting from unequal crossovers between the LCRs flanking the DGS/VCFS region, type I with both breakpoints in the proximal LCR, type II one or both breakpoints at the distal LCR including one or two copies of the DGS/VCFS region ; occurrence of direct transmission of SMC-mosaicism in CES PMID: 22495764 ; a 600 kb triplication containing CECR2, SLC25A18,ATP6V1E1 causes anorectal, renal and preauricular anomalies in a three-generation family, PMID: 22395867;;
    Genotype/Phenotype correlations no phenotypic differences between type I and II ; other small supernumerary marker chromosomes derived from chromosome 22 (SMC22) have a phenotype ranging from the normal development to syndromic severe mental retardation