A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10428841" target="_blank" >RIV/00216208:11130/21:10428841 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/21:10428841
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Z-aTFMNVGe" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Z-aTFMNVGe</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ejmg.2021.104264" target="_blank" >10.1016/j.ejmg.2021.104264</a>

Result language
angličtina
Original language name
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes
Original language description
BACKGROUND: Maturity onset diabetes of the young (MODY) is the most commonly reported form of monogenic diabetes in the pediatric population. Only a few cases of digenic MODY have been reported up to now. CASE REPORT: A female patient was diagnosed with diabetes at the age of 7 years and was treated with insulin. A strong family history of diabetes was present in the maternal side of the family. The patient also presented hypomagnesemia, glomerulocystic kidney disease and a bicornuate uterus. Genetic testing of the patient revealed that she was a double heterozygous carrier of HNF1A gene variant c.685C > T; (p.Arg229Ter) and a whole gene deletion of the HNF1B gene. Her mother was a carrier of the same HNF1A variant. CONCLUSION: Digenic inheritance of MODY pathogenic variants is probably more common than currently reported in literature. The use of Next Generation Sequencing panels in testing strategies for MODY could unmask such cases that would otherwise remain undiagnosed.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30209 - Paediatrics

Project
<a href="/en/project/NV18-01-00078" target="_blank" >NV18-01-00078: Pancreatic beta cell-related genes and their role in the pathogenesis and treatment of monogenic diabetes</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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