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dc.contributor.authorSansbury, Francis H.en
dc.contributor.authorKirel, B.en
dc.contributor.authorCaswell, Richard C.en
dc.contributor.authorAllen, H. L.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorShaw-Smith, Charlesen
dc.identifier.citationBiallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 2015, 23 (12):1744-8 Eur. J. Hum. Genet.en
dc.description.abstractNeonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. In all, eight cases have been reported, with the age at onset of diabetes in the first 2 weeks of life. Here we report two individuals born to double first cousins in whom intestinal atresias consistent with a diagnosis of Mitchell-Riley syndrome were diagnosed at birth, but in whom diabetes did not present until the ages of 3 and 6 years. Novel compound heterozygous RFX6 nonsense mutations (p.Arg726X/p.Arg866X) were identified at the 3' end of the gene. The later onset of diabetes in these patients may be due to incomplete inactivation of RFX6. Genetic testing for RFX6 mutations should be considered in patients presenting with intestinal atresias in the absence of neonatal diabetes.en
dc.rightsArchived with thanks to European journal of human genetics : EJHGen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.subjectWessex Classification Subject Headings::Paediatricsen
dc.titleBiallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.en
dc.typeJournal Articleen
dc.identifier.journalEuropean journal of human genetics : EJHGen
dc.description.noteThis article is freely available via the publisher's site - click on the 'Additional Link' above to access the full text.en
dc.description.funding098395/Wellcome Trust/United Kingdomen

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