dc.contributor.author | Sansbury, Francis H. | |
dc.contributor.author | Kirel, Birgul | |
dc.contributor.author | Caswell, Richard | |
dc.contributor.author | Allen, Hana Lango | |
dc.contributor.author | Flanagan, SE | |
dc.contributor.author | Hattersley, Andrew T. | |
dc.contributor.author | Ellard, Sian | |
dc.contributor.author | Shaw-Smith, Charles J. | |
dc.date.accessioned | 2015-09-16T15:29:08Z | |
dc.date.issued | 2015-08-12 | |
dc.description.abstract | Neonatal 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.European Journal of Human Genetics advance online publication, 12 August 2015; doi:10.1038/ejhg.2015.161. | en_GB |
dc.description.sponsorship | NIHR - academic clinical fellowship | en_GB |
dc.identifier.citation | Vol. 23, Issue 12, 1744–1748 | |
dc.identifier.doi | 10.1038/ejhg.2015.161 | |
dc.identifier.uri | http://hdl.handle.net/10871/18260 | |
dc.language.iso | en | en_GB |
dc.publisher | Nature Publishing Group | en_GB |
dc.relation.url | http://www.ncbi.nlm.nih.gov/pubmed/26264437 | en_GB |
dc.rights | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | en_GB |
dc.title | Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2015-09-16T15:29:08Z | |
dc.identifier.issn | 1018-4813 | |
dc.description | Open access article | en_GB |
dc.identifier.eissn | 1476-5438 | |
dc.identifier.journal | European Journal of Human Genetics | en_GB |