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A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes
K. Patouni, O. Cinek, S. Pruhova, L. Elblova, M. Xatzipsalti, A. Sertedaki, A. Vazeou
Language English Country Netherlands
Document type Case Reports, Journal Article
- MeSH
- Kidney Diseases, Cystic genetics pathology MeSH
- Diabetes Mellitus, Type 2 genetics pathology MeSH
- Child MeSH
- Phenotype MeSH
- Hepatocyte Nuclear Factor 1-alpha genetics MeSH
- Hepatocyte Nuclear Factor 1-beta genetics MeSH
- Heterozygote MeSH
- Humans MeSH
- Mutation MeSH
- Kidney Diseases genetics pathology MeSH
- Uterus abnormalities MeSH
- Renal Tubular Transport, Inborn Errors genetics pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
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.
References provided by Crossref.org
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- $a Patouni, Konstantina $u Diabetes Center, First Department of Paediatrics, "P. & A. Kyriakou" Children's Hospital, Athens, Greece. Electronic address: di_pat7@yahoo.gr
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