title: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.
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.
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Autonomous Section of Health Sciences, University of Aveiro, Aveiro, Portugal.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Seabra
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
authors.forename: Sofia
authors.initials: S
authors.lastname: Quental
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Neto
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
authors.affiliation: Human Genetics Center, National Institute of Health Dr. Ricardo Jorge, Lisboa, Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Gonçalves
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Susana
authors.initials: S
authors.lastname: Fernandes
authors.affiliation: Laboratory of Cell Biology, UMIB, ICBAS, University of Porto, Porto, Portugal.
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Faculty of Sciences, University of Porto, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. Electronic address: alopes@ipatimup.pt.
authors.forename: Alexandra M
authors.initials: AM
authors.lastname: Lopes
mesh_terms: D000328:Adult; D020087:Alu Elements; D053713:Azoospermia / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D003456:Cryptorchidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D008297:Male; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D025721:WT1 Proteins; C583751:WT1 protein, human
keywords: WT1 cryptic deletion; azoospermia; cryptorchidism; multiplex ligation-dependent probe amplification; nonallelic homologous recombination