A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/2707 |
Resumo: | 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. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
spelling |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermiaAzoospermiaWT1CryptorchidismMale InfertilityMicrodeletionDoenças GenéticasWT1 Cryptic DeletionMultiplex Ligation-dependent Probe AmplificationNonallelic Homologous RecombinationThis 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.Elsevier/Reproductive HealthcareRepositório Científico do Instituto Nacional de SaúdeSeabra, Catarina M.Quental, SofiaPaula Neto, AnaCarvalho, FilipaGonçalves, JoãoPaulo Oliveira, JoãoFernandes, SusanaSousa, MárioBarros, AlbertoAmorim, AntónioLopes, Alexandra M.2015-01-29T12:41:52Z2014-05-162014-05-16T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2707engReprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 161472-648310.1016/j.rbmo.2014.04.017info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:26Zoai:repositorio.insa.pt:10400.18/2707Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:43.307502Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
title |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
spellingShingle |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia Seabra, Catarina M. Azoospermia WT1 Cryptorchidism Male Infertility Microdeletion Doenças Genéticas WT1 Cryptic Deletion Multiplex Ligation-dependent Probe Amplification Nonallelic Homologous Recombination |
title_short |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
title_full |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
title_fullStr |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
title_full_unstemmed |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
title_sort |
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia |
author |
Seabra, Catarina M. |
author_facet |
Seabra, Catarina M. Quental, Sofia Paula Neto, Ana Carvalho, Filipa Gonçalves, João Paulo Oliveira, João Fernandes, Susana Sousa, Mário Barros, Alberto Amorim, António Lopes, Alexandra M. |
author_role |
author |
author2 |
Quental, Sofia Paula Neto, Ana Carvalho, Filipa Gonçalves, João Paulo Oliveira, João Fernandes, Susana Sousa, Mário Barros, Alberto Amorim, António Lopes, Alexandra M. |
author2_role |
author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Seabra, Catarina M. Quental, Sofia Paula Neto, Ana Carvalho, Filipa Gonçalves, João Paulo Oliveira, João Fernandes, Susana Sousa, Mário Barros, Alberto Amorim, António Lopes, Alexandra M. |
dc.subject.por.fl_str_mv |
Azoospermia WT1 Cryptorchidism Male Infertility Microdeletion Doenças Genéticas WT1 Cryptic Deletion Multiplex Ligation-dependent Probe Amplification Nonallelic Homologous Recombination |
topic |
Azoospermia WT1 Cryptorchidism Male Infertility Microdeletion Doenças Genéticas WT1 Cryptic Deletion Multiplex Ligation-dependent Probe Amplification Nonallelic Homologous Recombination |
description |
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. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-05-16 2014-05-16T00:00:00Z 2015-01-29T12:41:52Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/2707 |
url |
http://hdl.handle.net/10400.18/2707 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Reprod Biomed Online. 2014 Sep;29(3):388-91. doi: 10.1016/j.rbmo.2014.04.017. Epub 2014 May 16 1472-6483 10.1016/j.rbmo.2014.04.017 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier/Reproductive Healthcare |
publisher.none.fl_str_mv |
Elsevier/Reproductive Healthcare |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132112504225792 |