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Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database

Objective To determine prevalence, genetic and phenotype characteristics of patients with hepatocyte nuclear factor-1α (HNF1A) variants in the Diabetes Patienten Verlaufsdokumenation (DPV) multicentre database and to examine the influence of HNF1A mutation type, or location on clinical phenotypes. P...

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Hauptverfasser: Awa, Wendy Lum (VerfasserIn) , Thon, A. (VerfasserIn) , Raile, K. (VerfasserIn) , Grulich-Henn, Jürgen (VerfasserIn) , Meissner, T. (VerfasserIn) , Schober, E. (VerfasserIn) , Holl, R. W. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: Apr 2011
In: European journal of endocrinology
Year: 2011, Jahrgang: 164, Heft: 4, Pages: 513-520
ISSN:1479-683X
DOI:10.1530/EJE-10-0842
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1530/EJE-10-0842
Verlag, lizenzpflichtig, Volltext: https://eje.bioscientifica.com/view/journals/eje/164/4/513.xml
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Verfasserangaben:W.L. Awa, A. Thon, K. Raile, J. Grulich-Henn, T. Meissner, E. Schober and R.W. Holl on behalf of the DPV-Wiss. Study Group

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520 |a Objective To determine prevalence, genetic and phenotype characteristics of patients with hepatocyte nuclear factor-1α (HNF1A) variants in the Diabetes Patienten Verlaufsdokumenation (DPV) multicentre database and to examine the influence of HNF1A mutation type, or location on clinical phenotypes. Patients and methods Seventy-one DPV patients were labelled as HNF1A-MODY (MODY3). Forty-four patients carried HNF1A mutations, while 27 patients were found to have HNF1A polymorphisms only. Associations between mutation type/position and age at disease onset, HbAlc, body mass index (BMI), diagnosis, family history and treatment modality were analysed using non-parametric statistics (Wilcoxon test). Results Patients with HNF1A mutations were 36% male, aged 14.1±5.8 years at diagnosis, and slightly overweight (BMI-SDS: +0.8±1.1). Treatment was lifestyle intervention (20.5%), insulin (35.3%), oral anti-diabetic (OAD, 43%) and both insulin+OAD (15.9%). More patients with missense mutations (60%) than patients with nonsense mutations/frameshift (23.8%) did not use insulin (P=0.03). No differences were found with regard to mutation types, isoform or domain. We identified several previously undescribed mutations in the cohort including c.-158insGGGTTGG in the promoter region, G31X, E41X, Q130X, L162P, R245I, A269P, S355X, Q398X, Q473X, Q495X, E508X, P588fs-insGCCA and P588fs-delAC. Patients carrying HNF1A polymorphisms were significantly younger at diagnosis than patients with HNF1A mutations (10.9±4.2 vs 14.19±5.8 years; P=0.027), and all carried I27L, S487N and A98V (n=3). Conclusion HNF1A-MODY is the second most frequent MODY diagnosis registered in the DPV database, and previously undescribed HNF1A mutations account for about one-third of HNF1A-MODY cases. Patients with HNF1A polymorphisms documented as HNF1A-MODY were misclassified. They may have autoantibody-negative type 1B or type 2 diabetes or may have other MODY types. 
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700 1 |a Schober, E.  |e VerfasserIn  |4 aut 
700 1 |a Holl, R. W.  |e VerfasserIn  |4 aut 
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