Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-09-2012
Symbol UPD14P
Location 14q32.2-q32.3
Name chromosome 14 uniparental disomy, paternal
Corresponding gene DLK1 , MEG3 , RTL1
Other symbol(s) UPD14P, UPD14pat
Main clinical features
  • small thorax, mildly short limbs, abdominal wall defects
  • characteristic face with short palpebral fissures, broad nasal bridge, prominent philtrum and small ears
  • radiographic features include bell-shaped thorax with an arched appearance of the ribs
  • several infants died from respiratory illness ; survivors have moderate to severe mental retardation, persistent chest wall deformities and kyphoscoliosis
    • Genetic determination epigenetic
    chromosomal
    Prevalence 15 reported patients
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      uniparental disomy   paternal hetero or isodisomy, full or segmental including 14q32
      translocation   Robertsonian translocation implicating chr 14 or isochromosome 14 in 10/15 reported patients
      supernumerary abnormal chromosome   UPD14 with a SMC14
      deletion   involving the IG-DMR and/or the MEG3-DMR, PMID: 22353941
    imprinting defect     affecting the DMRs, PMID: 22353941
    Remark(s) one or more imprinted genes are likely implicated for the phenotype of UPD14, candidate genes are the oppositely imprinted genes DLK1 (pat) and MEG3/GTL2 (mat) on 14q32 ; RTL1 gene is a retrotransposon gene that is paternally expressed and regulated by a maternally expressed microRNA
    Genotype/Phenotype correlations a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethylations) affecting the DMRs, PMID: 22353941;;