| Literature DB >> 24912414 |
Catarina M Seabra1, Sofia Quental2, Ana Paula Neto3, Filipa Carvalho3, João Gonçalves4, João Paulo Oliveira3, Susana Fernandes3, Mário Sousa5, Alberto Barros3, António Amorim6, Alexandra M Lopes7.
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.Entities:
Keywords: WT1 cryptic deletion; azoospermia; cryptorchidism; multiplex ligation-dependent probe amplification; nonallelic homologous recombination
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Year: 2014 PMID： 24912414 DOI： 10.1016/j.rbmo.2014.04.017
Source DB: PubMed Journal: Reprod Biomed Online ISSN： 1472-6483 Impact factor: 3.828