Present limitations of molecular biological diagnostics in Gillespie syndrome.

Background: Gillespie syndrome is the phenotype partial aniridia, cerebella r ataxia and mental retardation. Further malformations can be associated, m ainly females are affected. Inheritance and genetics of the syndrome are un known. Autosomal dominant aniridia is an important differentialdiagnosis of fixed dilated pupils and is usually associated by mutations of the PAX6 ge ne. In 1998 the first report of a chromosomal abnormality presenting a de n ovo translocation t(X;11) (p22.32;p12) detected in a patient with Gillespie syndrome has been published. Patients and methods: A 8 year-old girl with Gillespie syndrome phenotype associated with congenital pulmonary stenosis and helix dysplasia is reported. Karyotyping as well as molecularbiological investigations of the PAX6 gene were performed. Results: The karyotype of the girl and her clinically inconspicuous mother showed no abnormalities, e specially no de novo translocation of the chromosomes X and 11. PAX6 gene a nalysis of the affected girl presented no mutations. Conclusions: The combi nation of muscular hypotonia and fixed dilated pupils in infancy is suspici ous of Gillespie syndrom. Congenital pulmonary stenosis and helix dysplasia can be associated. PAX6 gene analysis can be helpful to distinguish betwee n autosomal dominant aniridia and Gillespie syndrome. To illucidate the und erlying genetic defects karyotyping and the search for de novo translocatio ns especially of chromosome X and 11 should be performed.