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Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family

Authors
  • Giannopoulou, Eleni Z1
  • Ovcarov, Olga1
  • De Franco, Elisa2
  • Kassberger, Fabian3
  • Nusser, Susanne3
  • Otto, Marie Celine3
  • Denzer, Christian1
  • Wabitsch, Martin1
  • 1 Division of Pediatric Endocrinology and Diabetes, Ulm University, Germany , (Germany)
  • 2 College of Medicine and Health, University of Exeter Medical School, UK , (United Kingdom)
  • 3 Klinikum Göppingen, Germany , (Germany)
Type
Published Article
Journal
Journal of Pediatric Endocrinology and Metabolism
Publisher
Walter de Gruyter GmbH
Publication Date
Nov 13, 2020
Volume
34
Issue
2
Pages
273–276
Identifiers
DOI: 10.1515/jpem-2020-0462
Source
De Gruyter
Keywords
License
Yellow

Abstract

ObjectivesNeonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is new?: •Novel ABCC8 mutation in an NDM case •Heterogeneous clinical presentation of diabetes and response to sulfonylurea therapy among family members with the same ABCC8 mutation.Case presentationWe report the case of a newborn with NDM and a heterozygous ABCC8 novel variant (c.3835G>A), successfully treated with sulfonylurea. The same ABCC8 variant was found in two other family members, already treated for type 2 diabetes.ConclusionsThis case demonstrates the variable phenotypic presentation of diabetes due to a novel ABCC8 mutation (c.3835G>A), ranging from transient NDM to adult-onset, insulin-demanding diabetes, among family members. Genetic testing in young individuals with a strong family history of diabetes, presenting with non-autoimmune diabetes is recommended as it can determine prognosis and treatment of affected family members.

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