Abstract

SO.13.07

Clinical characterization and genetic analysis of patients with Duane syndrome and positive family history for different forms of strabismus

Antje Neugebauer1, Alexander Volk2, Julia Fricke1, Christian Kubisch2
1Zentrum für Augenheilkunde, Klinikum der Universität zu Köln, Köln, 2Institut für Humangenetik, Klinikum der Universität zu Köln, Köln

Objective
Mutations in the gene CHN1 have been described as causative in cases of familial Duane syndrome (DURS2). We screened for mutations in CHN1 in patients with Duane syndrome and positive family history for different forms of strabismus.
Methods
4 patients with Duane syndrome were examined.
Two patients had familial Duane syndrome each with two affected relatives.
One additional patient showed a thumb malformation. This patient had been tested negative by us for a mutation in the SALL4 gene. Her mother and sister suffered from concomitant esotropia.
A further patient had bilateral Duane syndrome. Her mother suffered from concomitant esotropia and her maternal grandmother displayed the combination of strabismus fixus and congenital see-saw nystagmus. In the 4 patients all coding exons and adjacent splice sites of CHN1 were directly sequenced after amplification of genomic DNA by polymerase chain reaction.
Results
None of the patients had a mutation in CHN1.
Conclusions
There is a variety of familial types of strabismus in Duane syndrome. Other genes than CHN1 may be causative for Duane syndrome with a family history of strabismus and further genetic analyses are warranted to identify hitherto unknown Duane genes.

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