Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

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...

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Main Authors:	Marta Zegre Amorim, Jayne A. L. Houghton, Sara Carmo, Inês Salva, Ana Pita, Luis Pereira-da-Silva
Format:	Article
Language:	English
Published:	Hindawi Limited 2015-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2015/937201

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spelling	doaj-1c1cd087bd92429aa5f2c82eb5b767072020-11-24T22:45:18ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/937201937201Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GeneMarta Zegre Amorim0Jayne A. L. Houghton1Sara Carmo2Inês Salva3Ana Pita4Luis Pereira-da-Silva5Genetics Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, PortugalRoyal Devon and Exeter Hospital, Exeter, Devon EX2 5DW, UKPediatric Surgery Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, PortugalNICU, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, PortugalNICU, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, PortugalNICU, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, PortugalA 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.http://dx.doi.org/10.1155/2015/937201
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Marta Zegre Amorim Jayne A. L. Houghton Sara Carmo Inês Salva Ana Pita Luis Pereira-da-Silva
spellingShingle	Marta Zegre Amorim Jayne A. L. Houghton Sara Carmo Inês Salva Ana Pita Luis Pereira-da-Silva Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene Case Reports in Genetics
author_facet	Marta Zegre Amorim Jayne A. L. Houghton Sara Carmo Inês Salva Ana Pita Luis Pereira-da-Silva
author_sort	Marta Zegre Amorim
title	Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
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
publisher	Hindawi Limited
series	Case Reports in Genetics
issn	2090-6544 2090-6552
publishDate	2015-01-01
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.
url	http://dx.doi.org/10.1155/2015/937201
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Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

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