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

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

doi:10.1016/j.rbmo.2014.04.017

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

Reprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 16.

Affiliations

¹ Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Autonomous Section of Health Sciences, University of Aveiro, Aveiro, Portugal.
² Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
³ Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
⁴ Human Genetics Center, National Institute of Health Dr. Ricardo Jorge, Lisboa, Portugal.
⁵ Laboratory of Cell Biology, UMIB, ICBAS, University of Porto, Porto, Portugal.
⁶ Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Faculty of Sciences, University of Porto, Porto, Portugal.
⁷ Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. Electronic address: alopes@ipatimup.pt.

PMID: 24912414
DOI: 10.1016/j.rbmo.2014.04.017

Abstract

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.

Keywords: WT1 cryptic deletion; azoospermia; cryptorchidism; multiplex ligation-dependent probe amplification; nonallelic homologous recombination.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alu Elements
Azoospermia / genetics*
Chromosomes, Human, Pair 11
Cryptorchidism / genetics*
DNA Mutational Analysis
Gene Deletion*
Humans
Male
WT1 Proteins / genetics*

Substances

WT1 Proteins
WT1 protein, human