期刊
MOLECULAR SYNDROMOLOGY
卷 13, 期 4, 页码 290-304出版社
KARGER
DOI: 10.1159/000518872
关键词
WAGR syndrome; Genotype-phenotype correlation; Deletion size; Chromosomal microarray analysis
资金
- CAPES
- CNPq
- FAPDF
WAGR syndrome is a contiguous gene deletion syndrome characterized by the joint deletion of PAX6 and WT1 genes. Analysis of deleted regions and phenotypic changes can contribute to a more accurate clinical characterization of the syndrome, emphasizing its broad phenotypic spectrum.
WAGR syndrome (Wilms' tumor, aniridia, genitourinary changes, and intellectual disability) is a contiguous gene deletion syndrome characterized by the joint deletion of PAX6 and WT1 genes, located in the short arm of chromosome 11. However, most deletions include other genes, leading to multiple associated phenotypes. Therefore, understanding how genes deleted together can contribute to other clinical phenotypes is still considered a challenge. In order to establish genotype-phenotype correlation in patients with interstitial deletions of the short arm of chromosome 11, we selected 17 patients with deletions identified by chromosomal microarray analysis: 4 new subjects and 13 subjects previously described in the literature with detailed clinical data. Through the analysis of deleted regions and the phenotypic changes, it was possible to suggest the contribution of specific genes to several nonclassical phenotypes, contributing to the accuracy of clinical characterization of the syndrome and emphasizing the broad phenotypic spectrum found in the patients. This study reports the first patient with a PAX6 partial deletion who does not present any eye anomaly thus opening a new set of questions about the functional activity of PAX6.
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