• PMID: 24912414
• Gene Name: WT1
• Condition: Cryptorchidism, azoospermia.
• Association: 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.
• Population size: 32
• Population details: 32 patients with isolated uni- or bilateral cryptorchidism
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Cryptorchidism, azoospermia.

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

Seabra CM, Quental S, Neto AP, Carvalho F, Gonçalves J, Oliveira JP, Fernandes S, Sousa M, Barros A, Amorim A, Lopes AM.

This 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. CI - Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Seabra, Catarina M AU - Seabra CM AD - Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Autonomous Section of Health Sciences, University of Aveiro, Aveiro, Portugal. FAU - Quental, Sofia AU - Quental S AD - Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. FAU - Neto, Ana Paula AU - Neto AP AD - Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. FAU - Carvalho, Filipa AU - Carvalho F AD - Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. FAU - Gonçalves, João AU - Gonçalves J AD - Human Genetics Center, National Institute of Health Dr. Ricardo Jorge, Lisboa, Portugal. FAU - Oliveira, João Paulo AU - Oliveira JP AD - Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. FAU - Fernandes, Susana AU - Fernandes S AD - Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. FAU - Sousa, Mário AU - Sousa M AD - Laboratory of Cell Biology, UMIB, ICBAS, University of Porto, Porto, Portugal. FAU - Barros, Alberto AU - Barros A AD - Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. FAU - Amorim, António AU - Amorim A AD - Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Faculty of Sciences, University of Porto, Porto, Portugal.