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

2014-05-16Journal article Restricted access
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dc.contributor.authorSeabra, Catarina M.
dc.contributor.authorQuental, Sofia
dc.contributor.authorPaula Neto, Ana
dc.contributor.authorCarvalho, Filipa
dc.contributor.authorGonçalves, João
dc.contributor.authorPaulo Oliveira, João
dc.contributor.authorFernandes, Susana
dc.contributor.authorSousa, Mário
dc.contributor.authorBarros, Alberto
dc.contributor.authorAmorim, António
dc.contributor.authorLopes, Alexandra M.
dc.date.accessioned2015-01-29T12:41:52Z
dc.date.available2015-01-29T12:41:52Z
dc.date.issued2014-05-16
dc.description.abstractThis 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.por
dc.identifier.citationReprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 16por
dc.identifier.doi10.1016/j.rbmo.2014.04.017
dc.identifier.issn1472-6483
dc.identifier.urihttp://hdl.handle.net/10400.18/2707
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevier/Reproductive Healthcarepor
dc.relationPTDC/SAU-NEU/101229/2008por
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S1472648314002569por
dc.subjectAzoospermiapor
dc.subjectWT1por
dc.subjectCryptorchidismpor
dc.subjectMale Infertilitypor
dc.subjectMicrodeletionpor
dc.subjectDoenças Genéticaspor
dc.subjectWT1 Cryptic Deletionpor
dc.subjectMultiplex Ligation-dependent Probe Amplificationpor
dc.subjectNonallelic Homologous Recombinationpor
dc.titleA novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermiapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage391por
oaire.citation.startPage388por
oaire.citation.titleReproductive BioMedicine Onlinepor
oaire.citation.volume29(3)por
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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