Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

Detalhes bibliográficos
Autor(a) principal: Amorim, M
Data de Publicação: 2015
Outros Autores: Houghton, J, Carmo, S, Salva, I, Pita, A, Pereira-da-Silva, L
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/2479
Resumo: A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
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spelling Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GeneMitchell-Riley SyndromeRFX6 GeneCase ReportHDE GENHDE CIR PEDHDE UCI NEOA novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.Hindawi Publishing CorporationRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEAmorim, MHoughton, JCarmo, SSalva, IPita, APereira-da-Silva, L2016-05-11T10:53:53Z20152015-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2479engCase Rep Genet. 2015 : 93720110.1155/2015/937201info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:37:18Zoai:repositorio.chlc.min-saude.pt:10400.17/2479Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:49.725602Repositório 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 Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
title Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
spellingShingle Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
Amorim, M
Mitchell-Riley Syndrome
RFX6 Gene
Case Report
HDE GEN
HDE CIR PED
HDE UCI NEO
title_short Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
title_full Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
title_fullStr Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
title_full_unstemmed Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
title_sort Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
author Amorim, M
author_facet Amorim, M
Houghton, J
Carmo, S
Salva, I
Pita, A
Pereira-da-Silva, L
author_role author
author2 Houghton, J
Carmo, S
Salva, I
Pita, A
Pereira-da-Silva, L
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Amorim, M
Houghton, J
Carmo, S
Salva, I
Pita, A
Pereira-da-Silva, L
dc.subject.por.fl_str_mv Mitchell-Riley Syndrome
RFX6 Gene
Case Report
HDE GEN
HDE CIR PED
HDE UCI NEO
topic Mitchell-Riley Syndrome
RFX6 Gene
Case Report
HDE GEN
HDE CIR PED
HDE UCI NEO
description A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
publishDate 2015
dc.date.none.fl_str_mv 2015
2015-01-01T00:00:00Z
2016-05-11T10:53:53Z
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/10400.17/2479
url http://hdl.handle.net/10400.17/2479
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Case Rep Genet. 2015 : 937201
10.1155/2015/937201
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
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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