Catarina M Seabra, Sofia Quental, Ana Paula Neto, Filipa Carvalho, João Gonçalves, João Paulo Oliveira, Susana Fernandes, Mário Sousa, Alberto Barros, António Amorim, Alexandra M Lopes
Reproductive biomedicine online 2014 SepThis article describes a patient with cryptorchidism and nonobstructive azoospermia presenting a novel microdeletion of approximately 1 Mb at 11p13. It was confirmed by multiplex ligation-dependent probe amplification that this heterozygous deletion spanned nine genes (WT1, EIF3M, CCDC73, PRRG4, QSER1, DEPDC7, TCP11L1, CSTF3 and HIPK3) and positioned the breakpoints within highly homologous repetitive elements. As far as is known, this is the smallest deletion as-yet described encompassing the WT1 gene and was detected only once in a total of 32 Portuguese patients with isolated uni- or bilateral cryptorchidism. These findings suggest that molecular analysis in patients with genitourinary features suggestive of WT1 impairment, namely cryptorchidism and renal abnormalities, may reveal cryptic genetic defects. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Catarina M Seabra, Sofia Quental, Ana Paula Neto, Filipa Carvalho, João Gonçalves, João Paulo Oliveira, Susana Fernandes, Mário Sousa, Alberto Barros, António Amorim, Alexandra M Lopes. A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia. Reproductive biomedicine online. 2014 Sep;29(3):388-91
PMID: 24912414
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