|Programm||"Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"|
No Evidence of SALL4-Mutations in Isolated Sporadic Stilling-Türk-Duane Syndrome
Wabbels B. K.1, Kohlhase J.2, Liebers M.2, Lorenz B.1
Purpose: The Stilling-Türk-Duane retraction syndrome (DS) accounts for 1-4% of all cases of strabismus. 90% are sporadic cases with a preponderance of females and the left eye. Mutations of the SALL4 gene on chromosome 20 have been found recently in 8 families with the autosomal-dominantly inherited Okihiro-syndrome (DS associated with radial forearm malformations) (Al-Baradie et al., 2002; Kohlhase et al., 2002). The aim of this study was to investigate this gene for mutations in isolated sporadic forms of DS.