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Meeting Abstracts

826-P: Treatment of MODY3 Disease by AAV-Hnf1a-Mediated Gene Therapy

ESTEFANIA CASANA LORENTE, VERONICA JIMENEZ, MIQUEL GARCIA, ALBA CASELLAS, MERITXELL MORRÓ, ANNA PUJOL, TURA FERRÉ, VÍCTOR SACRISTÁN, CLAUDIA JAMBRINA, XAVIER LEON, SYLVIE FRANCKHAUSER, FATIMA BOSCH

Diabetes 2023;72(Supplement_1):826-P

https://doi.org/10.2337/db23-826-P

Published: 20 June 2023

View article titled, 826-P: Treatment of MODY3 Disease by AAV-Hnf1a-Mediated Gene Therapy

Meeting Abstracts

1750-P: Differential Impacts of Two Novel HNF1A Variants Associated with Familial Young-Onset Diabetes on Protein Function and Insulin Secretion In Vitro

INES CHERKAOUI, QIAN DU, CAMILLE DION, HARRY LEITCH, PAULINE L. CHABOSSEAU, DIETRICH M. EGLI, DILSHAD SACHEDINA, JULES WASTIN, SHIVANI MISRA, GUY A. RUTTER

Diabetes 2023;72(Supplement_1):1750-P

https://doi.org/10.2337/db23-1750-P

Published: 20 June 2023

View article titled, 1750-P: Differential Impacts of Two Novel HNF1A Variants Associated with Familial Young-Onset Diabetes on Protein Function and Insulin Secretion In Vitro

Meeting Abstracts

182-OR: Clinical Effects of SGLT2 Inhibitors in HNF1A-Diabetes (MODY3) : A Case Series

HENRIK MAAGENSEN, SOFIE HAEDERSDAL, JESPER KROGH, TORBEN HANSEN, FILIP K. KNOP, TINA VILSBØLL

Diabetes 2022;71(Supplement_1):182-OR

https://doi.org/10.2337/db22-182-OR

Published: 01 June 2022

View article titled, 182-OR: Clinical Effects of SGLT2 Inhibitors in HNF1A-Diabetes (MODY3) : A Case Series

Meeting Abstracts

1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

SANDRA TSOI, CADMON K. LIM, RONALD C. MA, ERIC S. LAU, BAOQI FAN, ELAINE CHOW, ALICE P. KONG, JULIANA C. CHAN, ANDREA LUK

Diabetes 2022;71(Supplement_1):1274-P

https://doi.org/10.2337/db22-1274-P

Published: 01 June 2022

View article titled, 1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

Meeting Abstracts

1273-P: The Interplay between Polygenic and Rare HNF1A Variant Risk in Type 2 Diabetes

LAUREN STALBOW, MICHAEL H. PREUSS, NATHALIE CHAMI, ROELOF A.J. SMIT, RUTH J. LOOS

Diabetes 2022;71(Supplement_1):1273-P

https://doi.org/10.2337/db22-1273-P

Published: 01 June 2022

View article titled, 1273-P: The Interplay between Polygenic and Rare HNF1A Variant Risk in Type 2 Diabetes

Meeting Abstracts

1290-P: A Rare Case of HNF1A-MODY

SARA VELAYATI, MICHAEL SHANIK, ISABELA J. ROMAO

Diabetes 2022;71(Supplement_1):1290-P

https://doi.org/10.2337/db22-1290-P

Published: 01 June 2022

View article titled, 1290-P: A Rare Case of HNF1A-MODY

Meeting Abstracts

149-OR: Genetic Modulation of HNF1A Activity via SGLT2 Deficiency Leads to Transient Intermittent Hyperglycemia: Consequences for HNF1A-MODY

ANA ACOSTA-MONTALVO, CHIARA SAPONARO, JULIEN THEVENET, MAGALI CHIRAL, ANTHONY PIRON, NATHALIE DELALLEAU, GIANNI PASQUETTI, ANAÏS CODDEVILLE, MARIA MORENO, VALERY GMYR, MIRIAM CNOP, JULIE A. KERR-CONTE, FRANCOIS PATTOU, MARCO PONTOGLIO, ADRIAN LISTON, CAROLINE BONNER

Diabetes 2022;71(Supplement_1):149-OR

https://doi.org/10.2337/db22-149-OR

Published: 01 June 2022

View article titled, 149-OR: Genetic Modulation of HNF1A Activity via SGLT2 Deficiency Leads to Transient Intermittent Hyperglycemia: Consequences for HNF1A-MODY

Journal Articles

GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in Hepatocyte Nuclear Factor 1α Mutation Carriers

Alexander S. Christensen, Sofie Hædersdal, Heidi Storgaard, Kathrine Rose, Nina L. Hansen, Jens J. Holst, Torben Hansen, Filip K. Knop, Tina Vilsbøll

Diabetes 2020;69(9):1989–2002

https://doi.org/10.2337/db20-0074

Published: 09 June 2020

View article titled, GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in Hepatocyte Nuclear Factor 1α Mutation Carriers

Meeting Abstracts

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

HAICHEN ZHANG, KRISTIN A. MALONEY, FABRIZIO BARBETTI, SIRI ATMA W. GREELEY, JARNO L.T. KETTUNEN, JOSÉ P. MIRANDA, UYENLINH L. MIRSHAHI, JANNE MOLNES, RINKI MURPHY, ROCHELLE N. NAYLOR, RUTH E. PAKYZ, LOUIS H. PHILIPSON, SABRINA PRUDENTE, TIINAMAIJA TUOMI, MIRIAM UDLER, KEVIN COLCLOUGH, LINDA JENG, TONI I. POLLIN

Diabetes 2020;69(Supplement_1):1453-P

https://doi.org/10.2337/db20-1453-P

Published: 01 June 2020

View article titled, 1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

Meeting Abstracts

923-P: Improved Glycemic Variability and Control without Increased Risk of Hypoglycemia when Linagliptin Is Added to Glimepiride Therapy in Patients with HNF1A-Diabetes

ALEXANDER S. CHRISTENSEN, SOFIE HAEDERSDAL, JULIE STØY, HEIDI STORGAARD, ULLA KAMPMANN, MARTA SEGHIERI, JENS J. HOLST, TORBEN HANSEN, FILIP K. KNOP, TINA VILSBØLL

Diabetes 2020;69(Supplement_1):923-P

https://doi.org/10.2337/db20-923-P

Published: 01 June 2020

View article titled, 923-P: Improved Glycemic Variability and Control without Increased Risk of Hypoglycemia when Linagliptin Is Added to Glimepiride Therapy in Patients with HNF1A-Diabetes

Meeting Abstracts

1900-P: HNF1A Deficiency Leads to Perturbed Glucagon Secretion in Humans

CHIARA SAPONARO, ANA ACOSTA-MONTALVO, LIA ANGUELOVA, JULIEN THEVENET, MAGALI CHIRAL, GIANNI PASQUETTI, ANTHONY PIRON, MIRIAM CNOP, VALERY GMYR, JOCHEN PREHN, JULIE A. KERR-CONTE, FRANCOIS PATTOU, MARCO PONTOGLIO, KATHARINE R. OWEN, IOANNIS SPILIOTIS, CAROLINE BONNER

Diabetes 2020;69(Supplement_1):1900-P

https://doi.org/10.2337/db20-1900-P

Published: 01 June 2020

View article titled, 1900-P: HNF1A Deficiency Leads to Perturbed Glucagon Secretion in Humans

Journal Articles

Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy

Ingrida Stankute, Rasa Verkauskiene, Jean-Louis Blouin, Philippe Klee, Rimante Dobrovolskiene, Evalda Danyte, Mirjam Dirlewanger, Federico Santoni, Dovile Razanskaite-Virbickiene, Dale Marciulionyte, Edita Jasinskiene, Giedre Mockeviciene, Valerie M. Schwitzgebel

Diabetes 2020;69(5):1065–1071

https://doi.org/10.2337/db19-0974

Published: 21 February 2020

View article titled, Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy

Includes: Supplementary data

Meeting Abstracts

981-P: GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in HNF1A Diabetes

ALEXANDER S. CHRISTENSEN, SOFIE HAEDERSDAL, HEIDI STORGAARD, KATHRINE ROSE, NINA L. HANSEN, JENS J. HOLST, TORBEN HANSEN, FILIP K. KNOP, VILSBØLL TINA

Diabetes 2019;68(Supplement_1):981-P

https://doi.org/10.2337/db19-981-P

Published: 01 June 2019

View article titled, 981-P: GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in HNF1A Diabetes

Meeting Abstracts

246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY

MARIE H. SOLHEIM, MOJDEH NASROLLAHZADEH KHAKIANI, JANNE MOLNES, INGVILD AUKRUST, PåL RASMUS NJøLSTAD, STEFAN JOHANSSON

Diabetes 2019;68(Supplement_1):246-LB

https://doi.org/10.2337/db19-246-LB

Published: 01 June 2019

View article titled, 246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY

Meeting Abstracts

1699-P: Identification of HNF1A Target Gene SNPs Associated with the Age of Onset of HNF1A MODY

AGNIESZKA LUDWIG-SLOMCZYNSKA, MICHAL SEWERYN, PRZEMYSłAW KAPUSTA, JAN SKUPIEN, BEATA M. KIEC-WILK, JULITA MACHLOWSKA, JR., MACIEJ MALECKI, PAWEL P. WOLKOW, TOMASZ KLUPA, NEMO COLLABORATORS

Diabetes 2019;68(Supplement_1):1699-P

https://doi.org/10.2337/db19-1699-P

Published: 01 June 2019

View article titled, 1699-P: Identification of HNF1A Target Gene SNPs Associated with the Age of Onset of HNF1A MODY

Meeting Abstracts

1700-P: Association between Genetic Variation and Age of Onset of HNF1A MODY from the Expression Genetic Standpoint

MICHAL SEWERYN, AGNIESZKA LUDWIG-SLOMCZYNSKA, BEATA M. KIEC-WILK, PRZEMYSłAW KAPUSTA, JAN SKUPIEN, MACIEJ MALECKI, PAWEL P. WOLKOW, TOMASZ KLUPA, NEMO COLLABORATORS

Diabetes 2019;68(Supplement_1):1700-P

https://doi.org/10.2337/db19-1700-P

Published: 01 June 2019

View article titled, 1700-P: Association between Genetic Variation and Age of Onset of HNF1A MODY from the Expression Genetic Standpoint

Meeting Abstracts

Quality of Life Assessment in Patients with HNF1A- and GCK-MODY Compared with T1DM

MAGDALENA SZOPA

Diabetes 2018;67(Supplement_1):895-P

https://doi.org/10.2337/db18-895-P

Published: 01 July 2018

View article titled, Quality of Life Assessment in Patients with HNF1A- and GCK-MODY Compared with T1DM

Journal Articles

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Jonathan M. Locke, Cécile Saint-Martin, Thomas W. Laver, Kashyap A. Patel, Andrew R. Wood, Seth A. Sharp, Sian Ellard, Christine Bellanné-Chantelot, Andrew T. Hattersley, Lorna W. Harries, Michael N. Weedon

Diabetes 2018;67(9):1903–1907

https://doi.org/10.2337/db18-0133

Published: 12 June 2018

View article titled, The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Journal Articles

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Laeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noel Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål Rasmus Njølstad

Diabetes 2017;66(2):335–346

https://doi.org/10.2337/db16-0460

Published: 29 November 2016

View article titled, Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Includes: Supplementary data

Journal Articles

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

Deimante Simaite, Julia Kofent, Maolian Gong, Franz Rüschendorf, Shiqi Jia, Pamela Arn, Kristi Bentler, Carolyn Ellaway, Peter Kühnen, Georg F. Hoffmann, Nenad Blau, Francesca M. Spagnoli, Norbert Hübner, Klemens Raile

Diabetes 2014;63(10):3557–3564

https://doi.org/10.2337/db13-1784

Published: 15 September 2014

View article titled, Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

Includes: Supplementary data

NARROW

826-P: Treatment of MODY3 Disease by AAV-Hnf1a-Mediated Gene Therapy

1750-P: Differential Impacts of Two Novel HNF1A Variants Associated with Familial Young-Onset Diabetes on Protein Function and Insulin Secretion In Vitro

182-OR: Clinical Effects of SGLT2 Inhibitors in HNF1A-Diabetes (MODY3) : A Case Series

1274-P: Prevalence and Clinical Characteristics of Monogenic Diabetes in Chinese Population

1273-P: The Interplay between Polygenic and Rare HNF1A Variant Risk in Type 2 Diabetes

1290-P: A Rare Case of HNF1A-MODY

149-OR: Genetic Modulation of HNF1A Activity via SGLT2 Deficiency Leads to Transient Intermittent Hyperglycemia: Consequences for HNF1A-MODY

GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in Hepatocyte Nuclear Factor 1α Mutation Carriers

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

923-P: Improved Glycemic Variability and Control without Increased Risk of Hypoglycemia when Linagliptin Is Added to Glimepiride Therapy in Patients with HNF1A-Diabetes

1900-P: HNF1A Deficiency Leads to Perturbed Glucagon Secretion in Humans

Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy

981-P: GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in HNF1A Diabetes

246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY

1699-P: Identification of HNF1A Target Gene SNPs Associated with the Age of Onset of HNF1A MODY

1700-P: Association between Genetic Variation and Age of Onset of HNF1A MODY from the Expression Genetic Standpoint

Quality of Life Assessment in Patients with HNF1A- and GCK-MODY Compared with T1DM

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

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