Summary
A family with dominantly inherited aniridia in three generations is presented. All three patients had an apparently balanced chromosome translocation t(4;11)(q22;p13). The patients were otherwise clinically normal and without signs of Wilms' tumor; their erythrocyte catalase activities were within the normal range.
We suggest that in this family aniridia is caused either by a submicroscopic deletion at the translocation breakpoint 11q13 or by a position effect on the same chromosome segment. Furthermore, the loci for aniridia and Wilms' tumor susceptibility are separate. It follows that the WAGR complex is caused by a mutation of more than one gene located at 11p13. The theoretical implications of a presumably defective allele causing a mendelian dominant phenotype are discussed.
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Simola, K.O.J., Knuutila, S., Kaitila, I. et al. Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. Hum Genet 63, 158–161 (1983). https://doi.org/10.1007/BF00291536
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DOI: https://doi.org/10.1007/BF00291536