The unique clinical spectrum of maturity onset diabetes of the young type 3

Yael Lebenthal*, Naama Fisch Shvalb, Yael Gozlan, Ariel Tenenbaum, Yardena Tenenbaum-Rakover, Emmanuel Vaillant, Phillipe Froguel, Martine Vaxillaire, Galia Gat-Yablonski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY.

Original languageEnglish
Pages (from-to)18-22
Number of pages5
JournalDiabetes Research and Clinical Practice
Volume135
DOIs
StatePublished - Jan 2018

Funding

FundersFunder number
D-CURE Diabetes Care in IsraelERANET-09-RARE-005
Israel Diabetes Association
Agence Nationale de la RechercheANR-10-LABX-46, ANR-10-EQPX-07-01
Ministry of Health, State of Israel

    Keywords

    • Genetics
    • Hepatocyte nuclear factor 1-alpha (HNF1A)
    • Maturity-onset diabetes of the young (MODY)
    • Mutation

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