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| http://dx.doi.org/10.1038/ejhg.2015.208 | DOI Listing |
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Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.
JCEM Case Rep
October 2024
Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA.
Article Synopsis
- Autoimmune polyglandular syndrome 1 (APS1) is a genetic disorder characterized by multiple autoimmune issues, including candidiasis, hypoparathyroidism, and adrenal insufficiency, caused by mutations in the autoimmune regulator gene.
- A case study of a 39-year-old woman with APS1 highlighted her severe health challenges, including childhood fungal infections that led to a bone marrow transplant and adult-onset partial lipodystrophy marked by significant fat loss.
- Research showed pathogenic variants in her genetic profile and the presence of specific autoantibodies, suggesting potential links to fat tissue issues, though the exact cause of her lipodystrophy remains unclear.
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Front Endocrinol (Lausanne)
July 2022
Department of Endocrinology, Metabolism and Diabetes, Inserm U1016, Cochin Institute, Paris, France.
Aims/hypothesis: Caused by biallelic mutations of the gene encoding the transcription factor , the rare Mitchell-Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and severe chronic diarrhea. So far, sixteen cases have been reported, all with a poor prognosis. This study discusses the multidisciplinary intensive clinical management of 4 new cases of MRS that survived over the first 2 years of life.
View Article and Find Full Text PDFBiallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Eur J Hum Genet
December 2015
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
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.
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