DUANE RETRACTION SYNDROME (DRS)

CHN1 GENE ANALYSIS IN DUANE RETRACTION SYNDROME

Duane retraction syndrome (DRS) is a congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Affected individuals have restricted abduction and in some cases adduction of their eyes, with retraction of the globe upon attempted adduction. Variants in the CHN1 gene have been shown to cause DRS (Miyake et al Science, 2008, 321: 839-842)

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.