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GENATLAS PHENOTYPE
last update : 26/07/2006
Symbol UPD14M
Location 14q32.2-q32.3
Name chromosome 14 uniparental disomy, maternal
Corresponding gene DLK1 , MEG3 , RTL1
Other symbol(s) UPDM14, mUPD14
Main clinical features
  • short stature, microcephaly, muscular hypotonia, small hands, hyperextensible joints, scoliosis, early onset of puberty, advanced bone age, hypercholesterolemia, obesity
  • mild dysmorphic features with a high and broad forehead, a high palate, a fleshy nasal tip and a slight blepharophimosis
  • psychomotor development and intelligence are variable
    • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Gene product
    Name RTL1 gene may play a major role in maintenance of the placenta and the evolution of this organ in mammals
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      uniparental disomy   maternal iso or heterodisomy, isodisomy may be associated with chr14 recessive disorders
      translocation   many cases are associated with a t(14;14) or a non-homologous Robertsonian translocation
      aneuploidy   trisomy mosaicism was demonstrated in some cases
    imprinting defect     isolated imprinting mutation of the DLK1/GTL2 locus
    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 under the regulation of a paternally methylated intergenic DMR ; RTL1 gene is a retrotransposon gene that is paternally expressed andregulated by a maternallyexpressed microRNA.