Konstantina Patouni1, Ondrej Cinek2, Stepanka Pruhova2, Lenka Elblova2, Maria Xatzipsalti3, Amalia Sertedaki4, Andriani Vazeou3. 1. Diabetes Center, First Department of Paediatrics, "P. & A. Kyriakou" Children's Hospital, Athens, Greece. Electronic address: di_pat7@yahoo.gr. 2. Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. 3. Diabetes Center, First Department of Paediatrics, "P. & A. Kyriakou" Children's Hospital, Athens, Greece. 4. Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece.
Abstract
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.
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.
Authors: Sílvia Santos Monteiro; Tiago da Silva Santos; Liliana Fonseca; Guilherme Assunção; Ana M Lopes; Diana B Duarte; Ana Rita Soares; Francisco Laranjeira; Isaura Ribeiro; Eugénia Pinto; Sónia Rocha; Sofia Barbosa Gouveia; María Eugenia Vazquez-Mosquera; Maria João Oliveira; Teresa Borges; Maria Helena Cardoso Journal: Acta Diabetol Date: 2022-10-08 Impact factor: 4.087