Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation

Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear...
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Autor*in:	Salzano, Giuseppina [verfasserIn] Passanisi, Stefano [verfasserIn] Mammì, Corrado [verfasserIn] Priolo, Manuela [verfasserIn] Pintomalli, Letizia [verfasserIn] Caminiti, Lucia [verfasserIn] Messina, Maria F. [verfasserIn] Pajno, Giovanni B. [verfasserIn] Lombardo, Fortunato [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Genetic testing Hepatocyte nuclear factor 1-alpha Hyperglycaemia Inheritance MODY Missense mutation Next-generation sequencing

Anmerkung:	© The Author(s) 2019

Übergeordnetes Werk:	Enthalten in: Diabetes therapy - Springer Healthcare, 2010, 10(2019), 4 vom: 16. Mai, Seite 1543-1548
Übergeordnetes Werk:	volume:10 ; year:2019 ; number:4 ; day:16 ; month:05 ; pages:1543-1548

Links:	Volltext

DOI / URN:	10.1007/s13300-019-0633-3

Katalog-ID:	SPR031255663

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spelling	10.1007/s13300-019-0633-3 doi (DE-627)SPR031255663 (SPR)s13300-019-0633-3-e DE-627 ger DE-627 rakwb eng 610 VZ Salzano, Giuseppina verfasserin aut Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2019 Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. Genetic testing (dpeaa)DE-He213 Hepatocyte nuclear factor 1-alpha (dpeaa)DE-He213 Hyperglycaemia (dpeaa)DE-He213 Inheritance (dpeaa)DE-He213 MODY (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Passanisi, Stefano verfasserin (orcid)0000-0002-4369-7798 aut Mammì, Corrado verfasserin aut Priolo, Manuela verfasserin aut Pintomalli, Letizia verfasserin aut Caminiti, Lucia verfasserin aut Messina, Maria F. verfasserin aut Pajno, Giovanni B. verfasserin aut Lombardo, Fortunato verfasserin aut Enthalten in Diabetes therapy Springer Healthcare, 2010 10(2019), 4 vom: 16. Mai, Seite 1543-1548 (DE-627)632439165 (DE-600)2566702-6 1869-6961 nnns volume:10 year:2019 number:4 day:16 month:05 pages:1543-1548 https://dx.doi.org/10.1007/s13300-019-0633-3 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 4 16 05 1543-1548
allfields_unstemmed	10.1007/s13300-019-0633-3 doi (DE-627)SPR031255663 (SPR)s13300-019-0633-3-e DE-627 ger DE-627 rakwb eng 610 VZ Salzano, Giuseppina verfasserin aut Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2019 Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. Genetic testing (dpeaa)DE-He213 Hepatocyte nuclear factor 1-alpha (dpeaa)DE-He213 Hyperglycaemia (dpeaa)DE-He213 Inheritance (dpeaa)DE-He213 MODY (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Passanisi, Stefano verfasserin (orcid)0000-0002-4369-7798 aut Mammì, Corrado verfasserin aut Priolo, Manuela verfasserin aut Pintomalli, Letizia verfasserin aut Caminiti, Lucia verfasserin aut Messina, Maria F. verfasserin aut Pajno, Giovanni B. verfasserin aut Lombardo, Fortunato verfasserin aut Enthalten in Diabetes therapy Springer Healthcare, 2010 10(2019), 4 vom: 16. Mai, Seite 1543-1548 (DE-627)632439165 (DE-600)2566702-6 1869-6961 nnns volume:10 year:2019 number:4 day:16 month:05 pages:1543-1548 https://dx.doi.org/10.1007/s13300-019-0633-3 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 4 16 05 1543-1548
allfieldsGer	10.1007/s13300-019-0633-3 doi (DE-627)SPR031255663 (SPR)s13300-019-0633-3-e DE-627 ger DE-627 rakwb eng 610 VZ Salzano, Giuseppina verfasserin aut Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2019 Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. Genetic testing (dpeaa)DE-He213 Hepatocyte nuclear factor 1-alpha (dpeaa)DE-He213 Hyperglycaemia (dpeaa)DE-He213 Inheritance (dpeaa)DE-He213 MODY (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Passanisi, Stefano verfasserin (orcid)0000-0002-4369-7798 aut Mammì, Corrado verfasserin aut Priolo, Manuela verfasserin aut Pintomalli, Letizia verfasserin aut Caminiti, Lucia verfasserin aut Messina, Maria F. verfasserin aut Pajno, Giovanni B. verfasserin aut Lombardo, Fortunato verfasserin aut Enthalten in Diabetes therapy Springer Healthcare, 2010 10(2019), 4 vom: 16. Mai, Seite 1543-1548 (DE-627)632439165 (DE-600)2566702-6 1869-6961 nnns volume:10 year:2019 number:4 day:16 month:05 pages:1543-1548 https://dx.doi.org/10.1007/s13300-019-0633-3 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 4 16 05 1543-1548
allfieldsSound	10.1007/s13300-019-0633-3 doi (DE-627)SPR031255663 (SPR)s13300-019-0633-3-e DE-627 ger DE-627 rakwb eng 610 VZ Salzano, Giuseppina verfasserin aut Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2019 Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. Genetic testing (dpeaa)DE-He213 Hepatocyte nuclear factor 1-alpha (dpeaa)DE-He213 Hyperglycaemia (dpeaa)DE-He213 Inheritance (dpeaa)DE-He213 MODY (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Passanisi, Stefano verfasserin (orcid)0000-0002-4369-7798 aut Mammì, Corrado verfasserin aut Priolo, Manuela verfasserin aut Pintomalli, Letizia verfasserin aut Caminiti, Lucia verfasserin aut Messina, Maria F. verfasserin aut Pajno, Giovanni B. verfasserin aut Lombardo, Fortunato verfasserin aut Enthalten in Diabetes therapy Springer Healthcare, 2010 10(2019), 4 vom: 16. Mai, Seite 1543-1548 (DE-627)632439165 (DE-600)2566702-6 1869-6961 nnns volume:10 year:2019 number:4 day:16 month:05 pages:1543-1548 https://dx.doi.org/10.1007/s13300-019-0633-3 X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 4 16 05 1543-1548
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source	Enthalten in Diabetes therapy 10(2019), 4 vom: 16. Mai, Seite 1543-1548 volume:10 year:2019 number:4 day:16 month:05 pages:1543-1548
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topic_facet	Genetic testing Hepatocyte nuclear factor 1-alpha Hyperglycaemia Inheritance MODY Missense mutation Next-generation sequencing
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author	Salzano, Giuseppina
spellingShingle	Salzano, Giuseppina ddc 610 misc Genetic testing misc Hepatocyte nuclear factor 1-alpha misc Hyperglycaemia misc Inheritance misc MODY misc Missense mutation misc Next-generation sequencing Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation
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topic_title	610 VZ Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation Genetic testing (dpeaa)DE-He213 Hepatocyte nuclear factor 1-alpha (dpeaa)DE-He213 Hyperglycaemia (dpeaa)DE-He213 Inheritance (dpeaa)DE-He213 MODY (dpeaa)DE-He213 Missense mutation (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213
topic	ddc 610 misc Genetic testing misc Hepatocyte nuclear factor 1-alpha misc Hyperglycaemia misc Inheritance misc MODY misc Missense mutation misc Next-generation sequencing
topic_unstemmed	ddc 610 misc Genetic testing misc Hepatocyte nuclear factor 1-alpha misc Hyperglycaemia misc Inheritance misc MODY misc Missense mutation misc Next-generation sequencing
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title	Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation
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title_full	Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation
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author_browse	Salzano, Giuseppina Passanisi, Stefano Mammì, Corrado Priolo, Manuela Pintomalli, Letizia Caminiti, Lucia Messina, Maria F. Pajno, Giovanni B. Lombardo, Fortunato
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title_sort	maturity onset diabetes of the young is not necessarily associated with autosomal inheritance: case description of a de novo hfn1a mutation
title_auth	Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation
abstract	Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. © The Author(s) 2019
abstractGer	Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. © The Author(s) 2019
abstract_unstemmed	Abstract Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. © The Author(s) 2019
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title_short	Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation
url	https://dx.doi.org/10.1007/s13300-019-0633-3
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up_date	2024-08-24T04:51:03.057Z
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MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. 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Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation

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