Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.
Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated with bi-allelic mutations in the gene COL25A1, raising the possibility that this particular Duane syndrome phenotype could be a monogenic recessive CCDD. To explore this possibility, we tested 4 consecutive unrelated subjects with the diagnosis for COL25A1 mutations. None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene.
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates. Electronic address: arif.khan@mssm.edu.
Arif O
AO
Khan
King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Jameela M
JM
Shinwari
King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Nada A
NA
Al-Tassan
D004370:Duane Retraction Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D010641:Phenotype
C456021:COL25A1 protein, human; D024041:Non-Fibrillar Collagens