Hotelbuchung
Hotel Registration
Grußwort
Welcome address
Beteiligte Gesellschaften
Societies involved
DOG Information
DOG Information
Eröffnung des Kongresses
Opening Ceremony
Preise
Awards
Ablauf der Tagung 2003
General overview of congress
Lageplan der Räumlichkeiten
Map of Congress Center
Wissenschaftliche Themen
Scientific topics
Symposien
Symposia
Wissenschaftliches Programm
Scientific program
Posterpräsentationen
Poster Presentation
Kurse
Courses
Begleitende Veranstaltungen
Accompanying program
Arbeitssitzungen
Working sessions
Rahmenprogramm
Social program
Allgemeine Informationen
General Information
Autorenindex
Index of Authors
Industrieaussteller
Commercial exhibitors
Sponsoren
Sponsors
Impressum
DOG Homepage
Abstract
Abstract
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