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Gene Review:

DURS2 - Duane retraction syndrome 2

Homo sapiens

This record was replaced with 1123.

Engle, E.C. et al., Demer, J.L. et al.

Engle, Andrews, Law, Demer,

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Disease relevance of DURS2

PURPOSE: High-resolution, multipositional magnetic resonance imaging (MRI) was used to demonstrate extraocular muscles (EOMs) and associated motor nerves in Duane retraction syndrome (DRS) linked to the DURS2 locus on chromosome 2 [1].

High impact information on DURS2

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 [2].

Biological context of DURS2

Linkage analysis reveals maximum lod scores >2, establishing that the DRS phenotype in these two pedigrees maps to the DURS2 locus [2].
RESULTS: By haplotype analysis, the DRS phenotype in each family cosegregates with markers spanning the DURS2 region [2].

Other interactions of DURS2

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane's Retraction Syndrome Linked to the DURS2 Locus [1].

References

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]
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]

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