Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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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
1University of Regensburg, Dept. of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Regensburg; 2University of Goettingen, Institute of Human Genetics, Goettingen

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.
Method: In 22 patients with non-familial DS (aged 1-75 years, 15 female, 7 male) and in 33 non-affected parents (as a control) DNA was prepared from peripheral lymphocytes. Subsequently, the complete coding region of the SALL4 gene of the patients was sequenced. Patients and parents were additionally interviewed concerning associated pathologies.
Results: In 17 patients the DS affected the left eye, in three the right eye and was bilateral in two patients. In addition, one patient had documented fused vertebrae of the cervical spine. No hearing impairment or malformation of the upper limbs were observed. No mutation in the coding region of the SALL4 gene could be detected in the pati

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