gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

Genotype phenotype analysis of the MAC complex (microphthalmos, anophthalmos, coloboma): Call for patients

Meeting Abstract

  • corresponding author C. M. Poloschek - University of Regensburg, Dpt. of Pediatric Ophthalmology, Strabismus and Ophthalmogenetics, Regensburg
  • M. Preising - University of Regensburg, Dpt. of Pediatric Ophthalmology, Strabismus and Ophthalmogenetics, Regensburg
  • K. Williamson - MRC Human Genetics Unit, Western General Hospital, Edinburgh/UK
  • V. van Heyningen - MRC Human Genetics Unit, Western General Hospital, Edinburgh/UK
  • B. Lorenz - University of Regensburg, Dpt. of Pediatric Ophthalmology, Strabismus and Ophthalmogenetics, Regensburg

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogSA.13.05

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/dog2004/04dog386.shtml

Veröffentlicht: 22. September 2004

© 2004 Poloschek et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective

Mendelian inheritance is rarely observed in MAC, implying mutations in several genes may account for the great variability of the MAC phenotype. As the MAC complex occurs only in 1:10000 births with an increasing number of causative genes identified, a sufficient number of patients is needed to perform a reliable genotpye phenotype analysis.

Aim

To examine underlying pathomechanisms by mutation analysis and identification of candidate genes. Eventually, the increasing knowledge might be used to prevent or at least reduce the incidence of the MAC phenotype.

Materials and Methods

The study was approved by the ethics committee of the Medical Faculty, University of Regensburg. Since 1992, 12 Patients with microphthalmos and 10 patients with anophthalmos have been examined at the University of Regensburg. Initial diagnosis was made through clinical examination, ultrasound A- and B-scan as well as MR imaging. Mutation analysis was performed at the Medical Research Council, Human Genetics Unit, Western General Hospital, Edinburgh, UK.

Results

In patients from this cohort, examined for mutations in the SOX2 gene (19 patients, MRC Human Genetics Unit), two mutations were identified (c.943del2, c.67del23) (Ragge et al., submitted 2004).The gene had been identified through a case with a translocation involving deletion of SOX2 at 3q26.3 [1]. No mutations were found in the SIX6 gene (9 patients, E. Silva, Baltimore, USA).

Conclusions

More DNA samples from MAC patients are required, e.g. by establishing a multicenter study, in order to conduct a comprehensive genotype phenotype analysis.

Supported by the UK Medical Research Council


References

1.
Fantes et al, Nat. Genet. 33:461-463, 2003