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last update : 30-11-2009
Symbol RSTS
Location 16p13.3
Name Rubinstein-Taybi syndrome
Other name(s)
  • Broad thumbs-hallux syndrome
  • Rubinstein syndrome
  • chromosome 16p13.3 deletion
  • Corresponding gene CREBBP
    Other symbol(s) RTS, DEL16P13.3
    Main clinical features
  • distinctive craniofacial features with microcephaly, downslanting palpebral fissures, beaked nose with the columella extending below the nares and highly arched palate
  • broad and often angulated thumbs and great toes, mental retardation,
  • may be associated with congenital heart disease (hypoplastic left heart) and polysplenia
  • Genetic determination autosomal dominant
    Prevalence estimated 1/125 000 livebirths, 50 p100 of RSTS patients (PMID: 19533794)
    Related entries include severe RSTS (MIM 610543)
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name CREB binding protein (CREBBP) transcriptional coactivator interacting with a number of proteins
    Gene mutationChromosome rearrangementEffectComments
    deletion   haploinsufficiency ~10 p100 of patients, detected by FISH using 5 cosmid probes spanning the 150 Kb of the CREEBBP gene
    missense   abnormal protein/loss of function mutations that affect only the HAT domain of CBP responsible of loss of HAT activity ( mutation R1664H, N1978S )
    abnormal splicing   abnormal protein/loss of function nonsense, missence and splicing mutations of CREBBP have been described in 35 p100 of patients
      translocation   Some rare patients have apparently balanced translocations or inversions involving 16p13.3
      deletion   submicroscopic deletions in 16p13
    Remark(s) belongs to the group of "chromatin disorders" ; CREBBP mutations in 50 percent of cases
    Genotype/Phenotype correlations
  • severe RSTS ( typical facial and skeletal anomalies, failure to thrive, seizures and intractable infections) is associated with a chr 16p13.3 deletion syndrome encompassing telomeric neighbor genes of CREBBP (TRAP1, DNASE1) (PMID: 16783566))
  • duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features (PMID: 19833603))