Artikel
Genotype phenotype analysis of the MAC complex (microphthalmos, anophthalmos, coloboma): Call for patients
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Autoren
Veröffentlicht: | 22. September 2004 |
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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