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The importance of DNA analysis in sporadic aniridia
Author(s) -
Mannens M.,
Hoovers J. M. N.,
BleekerWagemakers E. M.,
Mäntyjärvi M.,
Tuppurainen K.
Publication year - 1993
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1993.tb08612.x
Subject(s) - aniridia , consanguinity , grandparent , pax6 , locus (genetics) , medicine , genetics , pediatrics , biology , gene , psychology , developmental psychology , transcription factor
. Total aniridia was found in a 2‐month‐old baby boy. Otherwise the baby was healthy. Ophthalmological examination of the elder sister, parents and paternal grandparents revealed no abnormalities. There was no consanguinity between the parents. Hence, the aniridia was considered sporadic, and the possibility of Wilms' tumour had to be taken into consideration. The chromosomes of the baby were normal, as judged by conventional cytogenetic analysis. In addition, DNA analysis demonstrated that there was no subchromosomal deletion in band 11p13, spanning the aniridia‐Wilms' tumour region. Therefore, we conclude that the genetic defect leading to aniridia is confined to the aniridia locus and that the child has no increased risk of developing Wilms' tumour.