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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol DRRS
Location 20q13.2
Name Duane radial ray syndrome
Other name(s)
  • Okihiro syndrome
  • Duane anomaly with radial ray abnormalities and deafness
  • DR syndrome
  • acrorenoocular syndrome
  • Corresponding gene SALL4
    Other symbol(s) DRRD, DURS, DEL20Q13
    Main clinical features
  • characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies
  • Genetic determination autosomal dominant
    Related entries Okihiro syndrome mimicking sometimes Holt-Oram , acrorenal-ocular syndrome, hemifacial microsomia
    Function/system disorder osteo-articular
    ear
    eye
    Type malformation
    Gene product
    Name sal-like 4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein mutation R905X leading to premature stop codon
      deletion haploinsufficiency submicroscopic multigene deletions , 1.76 to 2.8Mb in size in 4 unrelated cases
    deletion   haploinsufficiency whole coding region or single exon deletions
    Remark(s)
    Genotype/Phenotype correlations
  • in multigene deletions, Okihiro syndrome is associated to variable degrees of mental retardation and choanal atresia
  • mutation R905X associated with hemifacial microsomia, and phenotypic variability
  • missense mutation, resulting in a loss of zinc ion binding but leading to an increased DNA-binding affinity of the domainassociated to mild features of Okihiro syndrome, but with in addition cranial midline defects (pituitary hypoplasia and single central incisor)