title: [Present limitations of molecular biological diagnostics in Gillespie syndrome].
abstract: BACKGROUND
  Gillespie syndrome is the phenotype partial aniridia, cerebellar ataxia and mental retardation. Further malformations can be associated, mainly females are affected. Inheritance and genetics of the syndrome are unknown. Autosomal dominant aniridia is an important differential diagnosis of fixed dilated pupils and is usually associated by mutations of the PAX6 gene. In 1998 the first report of a chromosomal abnormality presenting a de novo translocation t(X;11) (p22.32;p12) detected in a patient with Gillespie syndrome has been published.
  
  
  METHODS
  A 8 year-old girl with Gillespie syndrome phenotype associated with congenital pulmonary stenosis and helix dysplasia is reported. Karyotyping as well as molecular biological investigations of the PAX6 gene were performed.
  
  
  RESULTS
  The karyotype of the girl and her clinically inconspicuous mother showed no abnormalities, especially no de novo translocation of the chromosomes X and 11. PAX6 gene analysis of the affected girl presented no mutations.
  
  
  CONCLUSIONS
  The combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of Gillespie syndrome. Congenital pulmonary stenosis and helix dysplasia can be associated. PAX6 gene analysis can be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome. To illucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed.
authors: Zentrum für Kinderheilkunde und Jugendmedizin, Klinik I, Klinikum der Johann Wolfgang Goethe-Universität, Frankfurt am Main. mkieslich@zki.uni-frankfurt.de
authors: M
authors: M
authors: Kieslich
authors: K
authors: K
authors: Vanselow
authors: G
authors: G
authors: Wildhardt
authors: B
authors: B
authors: Gebhardt
authors: R
authors: R
authors: Weis
authors: H
authors: H
authors: Böhles
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins