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GENATLAS PHENOTYPE
last update : 30-01-2013
Symbol DUP8P23
Location 8p23.1
Name chromosome 8p23.1 duplication
Corresponding gene GATA4 , SOX7
Main clinical features
  • a variable phenotype including one or more of speech delay, developmental delay, mild dysmorphism, with prominent forehead and arched eyebrows, and congenital heart disease
  • may be transmitted from parent to child
  • mild or moderate developmental delays and/or learning difficulties have been found in 11/12 postnatal probands, a variable degree of mild dysmorphism in 8/12 and congenital heart disease (CHD) in 4/5 prenatal and 3/12 postnatal probands. Additional features include behavioral problems, cleft lip and/or palate, macrocephaly, and seizures, PMID: 23345203
    • Genetic determination chromosomal
    genomic disorder
    Prevalence estimated prevalence of 1 in 60,000, PMID: 20167067, PMID: 23345203
    Related entries DEL8P23
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name The core duplication of 3.68 Mb contains 31 genes and microRNAs of which only GATA4, TNKS, SOX7, and XKR6 are likely to be dosage sensitive genes and MIR124-1 and MIR598 have been implicated in neurocognitive phenotypes, PMID: 23345203
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication over-expression duplication ~3.75 Mb including GATA4 between the distal and proximal olfactory receptor/defensin repeats (ORDRs); the copy number of the adjacent repeats may also be altered
      other unknown cytogenetically visible benign copy number variants of a defensin domain, usually familial
    Remark(s) the 8p23.1 duplication syndrome cannot be distinguished using conventional cytogenetics from high level copy number variation of the repeats themselves (PMID: 16077733,, PMID: 20167067))