11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Karen Brøndum-Nielsen,Regitze Bangsgaard,Gitte J Almind,Karen Grønskov,Peter Baekgaard

doi:10.1186/1755-8166-2-6

Karen Brøndum-Nielsen, Regitze Bangsgaard + Show 3 more

Open Access

https://doi.org/10.1186/1755-8166-2-6

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Journal: Molecular Cytogenetics	Publication Date: Jan 1, 2009
Citations: 19	License type: cc-by

Affiliation: Kennedy Center, Glostrup Hospital

Abstract

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.

Highlights

The clinical association of Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation (WAGR) is a contiguous gene deletion syndrome caused by a deletion on the short arm of chromosome 11
The patient presented in this work shows mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face
The distal breakpoint was mapped between the PAX6 and RCN1 genes, while the proximal breakpoint was mapped to lie either within or proximal to the LRRC4C gene (Figure 2)

Summary

Background

The clinical association of Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation (WAGR) is a contiguous gene deletion syndrome caused by a deletion on the short arm of chromosome 11. The patient is mildly to moderately mentally retarded and attends special school His face is dysmorphic with a depressed nasal bridge, folded ears (especially on the right side), and a maxillary overbite and bilaterally down slanting eyes with ptosis (figure 1). The positions of relevant MLPA probes are shown in figure 2. FISH analysis using probe B2.1 (WT1, 11p14.1 [10]) showed deletion of Wilms' tumor-locus while FISH analysis using probe FAT5 (aniridia-locus, PAX6 gene, 11p14.1 [10]) showed signals from both chromosomes 11 (figure 3). Map are shown localization of probes used in FISH and MLPA analyses. (BAC clone RP1-319D17 deleted), while the proximal breakpoint mapped between position 40,199,857 (fosmid clone G248P89483C8 deleted) and position 40,289,835 (fosmid clone G248P8673G5 not deleted) (figure 2)

Conclusion

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