title: Undiagnosed MODY: Time for Action.
abstract: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for at least 1 % of all cases of diabetes mellitus. MODY classically presents as non-insulin-requiring diabetes in lean individuals typically younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95 % of MODY cases in the USA are misdiagnosed. MODY prevalence and characteristics have been well-studied in some populations, such as the UK and Norway, while other ethnicities, like African and Latino, need much more study. Emerging next-generation sequencing methods are making more widespread study and clinical diagnosis increasingly feasible; at the same time, they are detecting other mutations in the same genes of unknown clinical significance. This review will cover the current epidemiological studies of MODY and barriers and opportunities for moving toward a goal of access to an appropriate diagnosis for all affected individuals.
authors.affiliation: Division of Endocrinology, Diabetes, and Nutrition and Program in Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Room 445C, Baltimore, MD, 21201, USA. jeffrey.kleinberger@som.umaryland.edu.
authors.forename: Jeffrey W
authors.initials: JW
authors.lastname: Kleinberger
authors.affiliation: Division of Endocrinology, Diabetes, and Nutrition and Program in Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Room 445C, Baltimore, MD, 21201, USA. tpollin@medicine.umaryland.edu.|University of Maryland School of Medicine, 660 West Redwood Street, Room 464, Baltimore, MD, 21201, USA. tpollin@medicine.umaryland.edu.
authors.forename: Toni I
authors.initials: TI
authors.lastname: Pollin
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D015995:Prevalence
keywords: Diagnosis; Epidemiology; MODY; Monogenic diabetes; Next-generation sequencing; Prevalence