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last update : 28-03-2012
Symbol DEL2Q23
Location 2q23.1
Name chromosome 2q23.1 interstitial deletion
Corresponding gene MBD5
Other symbol(s) DUP2Q23
Main clinical features
  • severe developmental and cognitive delays, minimal speech, seizures, microcephaly, mild craniofacial dysmorphism, behavioral disorders, and short stature
  • partial or complete deletion of MBD5 was associated with haploinsufficiency of mRNA expression, intellectual disability, epilepsy, and autistic features, implicating MBD5 as a single causal locus PMID: 21981781..
  • obesity caused by hyperphagia was observed in 28% of the patients, PMID: 23494922
  • Genetic determination chromosomal
    Prevalence 65 subjects with microdeletion or translocation of chromosomal region 2q23.1
    Function/system disorder mental retardation
    Type MCA/MR
    Gene product
    Name epigenetic regulator
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency from >4 Mb to <200 kb, minimal critical region including a single gene, MBD5, deleted in all cases, whereas all but one case also include deletion of EPC2
      deletion   ranged in size from 38 kb to greater than 19 Mb PMID: 21981781
    Remark(s) expression profiles and clinical characteristics were largely indistinguishable between MBD5-specific alteration and deletion of the entire 2q23.1 interval
    Genotype/Phenotype correlations two patients with developmental delay, hypotonia, and autistic features associated with duplications of 2q23.1 PMID: 22085900;;