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GENATLAS PHENOTYPE
last update : 28-03-2014
Symbol RBS
Location 8p21.1
Name Roberts syndrome
Other name(s) long bone deficiencies associated with cleft lip-palate
Corresponding gene ESCO2
Main clinical features
  • tetraphocomelia, radial aplasia, hypoplastic ulnas and malformed hands, aplasia of the fibula and clubfoot
  • associated to craniofacial anomalies and microcephaly, bilateral cleft lip and palate, and at the other extreme, form severe with death
  • cytogenetic phenotype with chromatid cohesion defect
  • Genetic determination autosomal recessive
    Related entries including SC phocomelia (SC) with a milder phenotype(OMIM 269000)
    Function/system disorder osteo-articular
    Type chromosomal instability syndrome
    Gene product
    Name establishment of cohesion 1 homolog 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      other   abnormal appearance of pericentromeric heterochromatin on metaphase chromosomes, referred to as heterochromatic repulsion or premature centromere separation
    other     frameshift, nonsense or missence mutations of ESCO2 gene
    Remark(s) loss of ESCO2 acetyltransferase activity contributes significantly to the molecular mechanism underlying RBS
  • RBS cells failed to exhibit excessive chromosome aberrations after irradiation in G2 phase of the cell cycle (van der Lelij 2009)
  • MTOR signaling is inhibited in human RBS cells (PMID: 24098154))
  • RBS can be attributed in part to defects in ribosome biogenesis, and stimulation of the TOR pathway has therapeutic potential (PMID: 24098154))