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Gene Review

DURS1  -  Duane retraction syndrome 1

Homo sapiens

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Disease relevance of DURS1


Psychiatry related information on DURS1

  • Surgery for Duane's Retraction Syndrome and superior oblique palsy, vergence adaptation in kids, depth perception in eye surgery; new surgery: IO-ANT [6]?
  • CONCLUSIONS: Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital oculomotor apraxia, and congenital or infantile esotropia [7].

High impact information on DURS1

  • The affected members represent a genetically defined population of DURS2-linked DRS individuals, and hence studies of their clinical and structural features can enhance understanding of the DURS2 phenotype, as described in the companion paper [8].
  • METHODS: Members of two large dominant DRS pedigrees were enrolled in an ongoing study of the genetic basis of the congenital cranial dysinnervation disorders, and linkage analysis was conducted to determine whether their DRS phenotype maps to the DURS2 locus [8].
  • RESULTS: A carboxypeptidase gene (CPAH) was directly interrupted between the first and second exons in a patient with DURS who carried a de novo reciprocal balanced translocation t(6;8)(q26;q13) involving the DURS1 region on chromosome arm 8q13 [2].
  • The break point in chromosome arm 8q is positioned within the DURS1 critical region [2].
  • METHODS: Fluorescence in situ hybridization (FISH) analysis using cosmid and BAC clones covering the DURS1 locus was performed to define the break point position and its relationship with expressed sequence tags (ESTs) in the region [2].

Biological context of DURS1

  • RESULTS: By haplotype analysis, the DRS phenotype in each family cosegregates with markers spanning the DURS2 region [8].
  • Linkage analysis reveals maximum lod scores >2, establishing that the DRS phenotype in these two pedigrees maps to the DURS2 locus [8].
  • Eighteen patients with sporadic DURS without cytogenetic abnormalities involving the DURS1 region were screened for point mutations in the candidate DURS1 gene [2].
  • Duane's retraction syndrome is a congenital eye movement disorder characterized by a deficiency of abduction, mild limitation of adduction, with retraction and narrowing of the palpebral fissure on attempted adduction [9].
  • The frequent association of DRS with other congenital anomalies suggests a teratogenic event occurring between the fourth to eighth week of gestation as an etiological factor [10].

Anatomical context of DURS1


Associations of DURS1 with chemical compounds

  • CONCLUSION: DRS is characterized by abnormal development of the cells in the abducens nucleus (CN VI), resulting in restricted or absent abduction and erroneous innervation of the lateral rectus by branches emanating from oculomotor nuclei (CN III) [16].
  • Examination revealed an ocular exam consistent with Duane's retraction syndrome, clinical and radiographic evidence of congenital fusion of C2 and C3 demonstrative of the Klippel-Feil anomaly, and a sensorineural hearing loss confirmed by audiometry [17].

Other interactions of DURS1


Analytical, diagnostic and therapeutic context of DURS1


  1. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nakano, M., Yamada, K., Fain, J., Sener, E.C., Selleck, C.J., Awad, A.H., Zwaan, J., Mullaney, P.B., Bosley, T.M., Engle, E.C. Nat. Genet. (2001) [Pubmed]
  2. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. Pizzuti, A., Calabrese, G., Bozzali, M., Telvi, L., Morizio, E., Guida, V., Gatta, V., Stuppia, L., Ion, A., Palka, G., Dallapiccola, B. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  3. Anterior segment ischemia after three rectus muscle surgery. Saunders, R.A., Phillips, M.S. Ophthalmology (1988) [Pubmed]
  4. Clinical diversity of hereditary Duane's retraction syndrome. Chung, M., Stout, J.T., Borchert, M.S. Ophthalmology (2000) [Pubmed]
  5. Inidcations of the posterior fixation operation in strabismus. von Noorden, G.K. Ophthalmology (1978) [Pubmed]
  6. Surgery for Duane's Retraction Syndrome and superior oblique palsy, vergence adaptation in kids, depth perception in eye surgery; new surgery: IO-ANT? Romano, P.E. Binocular vision & strabismus quarterly. (2001) [Pubmed]
  7. Clinical features of 201 cases with Duane's retraction syndrome. Zhang, F. Chin. Med. J. (1997) [Pubmed]
  8. Two Pedigrees Segregating Duane's Retraction Syndrome as a Dominant Trait Map to the DURS2 Genetic Locus. Engle, E.C., Andrews, C., Law, K., Demer, J.L. Invest. Ophthalmol. Vis. Sci. (2007) [Pubmed]
  9. Severe adduction deficiency following a large medial rectus recession in Duane's retraction syndrome. Nelson, L.B. Arch. Ophthalmol. (1986) [Pubmed]
  10. Duane's retraction syndrome. DeRespinis, P.A., Caputo, A.R., Wagner, R.S., Guo, S. Survey of ophthalmology. (1993) [Pubmed]
  11. Wildervanck or cervico-oculo-acoustic syndrome and MRI findings. Hughes, P.J., Davies, P.T., Roche, S.W., Matthews, T.D., Lane, R.J. J. Neurol. Neurosurg. Psychiatr. (1991) [Pubmed]
  12. Usefulness of MR imaging in children without characteristic clinical findings of Duane's retraction syndrome. Kim, J.H., Hwang, J.M. AJNR. American journal of neuroradiology. (2005) [Pubmed]
  13. Bilateral Duane's retraction syndrome. A clinical-pathologic case report. Hotchkiss, M.G., Miller, N.R., Clark, A.W., Green, W.R. Arch. Ophthalmol. (1980) [Pubmed]
  14. Unilateral Duane's retraction syndrome (Type 1). Miller, N.R., Kiel, S.M., Green, W.R., Clark, A.W. Arch. Ophthalmol. (1982) [Pubmed]
  15. Duane's retraction syndrome associated with optic nerve hypoplasia. Denslow, G.T., Sims, M. Journal of pediatric ophthalmology and strabismus. (1980) [Pubmed]
  16. Duane's retraction syndrome: literature review. Gurwood, A.S., Terrigno, C.A. Optometry (St. Louis, Mo.) (2000) [Pubmed]
  17. Wildervanck's syndrome presenting as hemiparesthesia. Johnson, N.A., McClure, M.J., Protzko, E., Fosmire, D. Military medicine. (1995) [Pubmed]
  18. Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane's Retraction Syndrome Linked to the DURS2 Locus. Demer, J.L., Clark, R.A., Lim, K.H., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (2007) [Pubmed]
  19. Congenital esotropia. Nelson, L.B., Wagner, R.S., Simon, J.W., Harley, R.D. Survey of ophthalmology. (1987) [Pubmed]
  20. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents. Di Maio, L., Marcelli, V., Vitale, C., Menzione, M., De Giorgio, A., Briganti, F., Perretti, A., Marciano, E., Filla, A., De Michele, G. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (2006) [Pubmed]
  21. Factors predicting upshoots and downshoots in Duane's retraction syndrome. Mohan, K., Saroha, V., Sharma, A. Journal of pediatric ophthalmology and strabismus. (2003) [Pubmed]
  22. Duane's retraction syndrome in association with retinitis pigmentosa. Pelit, A., Aydogan, N., Oto, S., Haciyakupoglu, G., Yilmaz, Z., Akova, Y.A. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2003) [Pubmed]
  23. Monozygotic twins concordant for bilateral Duane's retraction syndrome. Hofmann, R.J. Am. J. Ophthalmol. (1985) [Pubmed]
  24. Improvement of horizontal excursion and abduction by vertical muscle transposition in patients with Duane's retraction syndrome type I. Sterk, C.C., van Hulst-Ginjaar, S.P., Swart-van den Berg, M. Journal of pediatric ophthalmology and strabismus. (2004) [Pubmed]
  25. A portable, real-time, clinical gait velocity analysis system. Weir, R.F., Childress, D.S. IEEE transactions on rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. (1997) [Pubmed]
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