Where to for precision treatment of HNF1A-MODY?

Document type :

Article dans une revue scientifique: Article de synthèse/Review paper

DOI :

10.1007/s00125-022-05696-4

PMID :

Permalink :

http://hdl.handle.net/20.500.12210/103347

Title :

Where to for precision treatment of HNF1A-MODY?

Author(s) :

Bonner, Caroline [Auteur]

Recherche translationnelle sur le diabète (RTD) - U1190
Saponaro, Chiara [Auteur]
Recherche translationnelle sur le diabète (RTD) - U1190

Journal title :

Diabetologia

Abbreviated title :

Diabetologia

Publication date :

2022-04-21

ISSN :

1432-0428

English keyword(s) :

HNF1A-MODY
Personalised medicine
Precision medicine

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Maturity-onset diabetes of the young (MODY) represents an autosomal dominant genetic form of diabetes, coined by Tattersall and Fajans in 1974 as having one or more variations in a single gene [1, 2]. MODY is initially ...
Show more >Maturity-onset diabetes of the young (MODY) represents an autosomal dominant genetic form of diabetes, coined by Tattersall and Fajans in 1974 as having one or more variations in a single gene [1, 2]. MODY is initially characterised by fasting hyperglycaemia, often diagnosed in children or young adults [2, 3]. Currently, MODY accounts for 1–5% of all individuals with diabetes [4], and at least 14 distinct subtypes have been reported to date [5, 6]. Heterozygous mutations in the gene encoding hepatocyte nuclear factor 1-alpha (HNF1A) cause the most common form of monogenic diabetes, known as HNF1A-MODY [7]. This form of MODY is highly prevalent in populations with European ancestry (>70%) and is more frequent than previously thought. Approximately 95% of individuals with HNF1A-MODY are misdiagnosed as either type 1 diabetes or type 2 diabetes, thus revealing a lack of physician awareness and/or access to genetic testing [8]. Early diagnosis is critical since HNF1A-MODY affects 50% of children born to a mutation carrier, and penetrance is often above 90%, such that three or more generations are usually affected [9].Show less >

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

Recherche translationnelle sur le diabète (RTD) - U1190

Submission date :

2024-01-19T22:40:38Z
2024-06-19T10:08:41Z

Version history