Case report

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

Gitte J Almind¹ , Karen Brøndum-Nielsen¹ , Regitze Bangsgaard² , Peter Baekgaard³ and Karen Grønskov¹

¹  Kennedy Center, Glostrup, Denmark

²  Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark

³  Department of Paediatrics, Glostrup Hospital, Glostrup, Denmark

author email corresponding author email

Molecular Cytogenetics 2009, 2:6doi:10.1186/1755-8166-2-6

Published:	17 February 2009

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.