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MeSH Review

Duane Retraction Syndrome

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Disease relevance of Duane Retraction Syndrome


High impact information on Duane Retraction Syndrome

  • SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development [3].
  • Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family [4].
  • The index patient shows mild features of Okihiro syndrome, but in addition cranial midline defects (pituitary hypoplasia and single central incisor) [5].
  • Mutations of human SALL4 have been linked to Okihiro syndrome, which includes preaxial (anterior) limb defects [6].
  • Using both genomic and cDNA mouse and human clones encoding a neural-specific bHLH protein, human BHLHB5 was cloned and mapped to a region on chromosome 8q13 that segregates with Duane syndrome [7].

Biological context of Duane Retraction Syndrome


Anatomical context of Duane Retraction Syndrome


Gene context of Duane Retraction Syndrome

  • The presence of CPA6 mRNA in the rectus muscle layer of the eye at embryonic day 14.5 is consistent with the observation that the CPA6 gene is disrupted in a patient with Duane syndrome, a congenital eye defect [10].
  • 2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the TBX5 locus, as well as acro-renal-ocular syndrome [8].
  • This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation [1].
  • Duane syndrome (MIM 126800) is an autosomal dominant disorder characterised by primary strabismus and other ocular anomalies, associated with variable deficiency of binocular sight [11].
  • However, 44% had both Duane's syndrome and radial ray anomaly, whereas sensorineural deafness alone occurred in only 17% of patients [12].


  1. Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. Vincent, A.L., Watkins, W.J., Sloan, B.H., Shelling, A.N. Clin. Genet. (2005) [Pubmed]
  2. Occult Duane syndrome: co-contraction revealed following strabismus surgery. Elsas, F.J. Journal of pediatric ophthalmology and strabismus. (1991) [Pubmed]
  3. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Al-Baradie, R., Yamada, K., St Hilaire, C., Chan, W.M., Andrews, C., McIntosh, N., Nakano, M., Martonyi, E.J., Raymond, W.R., Okumura, S., Okihiro, M.M., Engle, E.C. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Okihiro syndrome is caused by SALL4 mutations. Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R.M., Reardon, W. Hum. Mol. Genet. (2002) [Pubmed]
  5. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., Kohlhase, J. Hum. Genet. (2006) [Pubmed]
  6. Expression of Xenopus XlSALL4 during limb development and regeneration. Neff, A.W., King, M.W., Harty, M.W., Nguyen, T., Calley, J., Smith, R.C., Mescher, A.L. Dev. Dyn. (2005) [Pubmed]
  7. Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor. Xu, Z.P., Dutra, A., Stellrecht, C.M., Wu, C., Piatigorsky, J., Saunders, G.F. Genomics (2002) [Pubmed]
  8. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. Kohlhase, J., Schubert, L., Liebers, M., Rauch, A., Becker, K., Mohammed, S.N., Newbury-Ecob, R., Reardon, W. J. Med. Genet. (2003) [Pubmed]
  9. Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome. Kohlhase, J., Heinrich, M., Liebers, M., Fröhlich Archangelo, L., Reardon, W., Kispert, A. Cytogenet. Genome Res. (2002) [Pubmed]
  10. Identification and distribution of mouse carboxypeptidase A-6. Fontenele-Neto, J.D., Kalinina, E., Feng, Y., Fricker, L.D. Brain Res. Mol. Brain Res. (2005) [Pubmed]
  11. Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. Calabrese, G., Telvi, L., Capodiferro, F., Morizio, E., Pizzuti, A., Stuppia, L., Bordoni, R., Ion, A., Fantasia, D., Mingarelli, R., Palka, G. Eur. J. Hum. Genet. (2000) [Pubmed]
  12. Characteristics of Okihiro syndrome. Chun, B.B., Mazzoli, R.A., Raymond, W.R. Journal of pediatric ophthalmology and strabismus. (2001) [Pubmed]
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