Literature DB >> 31063852

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

May Sanyoura1, Lisa Letourneau2, Amy E Knight Johnson3, Daniela Del Gaudio3, Siri Atma W Greeley2, Louis H Philipson2, Rochelle N Naylor2.   

Abstract

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.
Copyright © 2019 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Glucokinase; MODY; Monogenic diabetes; Next-generation sequencing; Pathogenic variants

Mesh：

Substances：

Year:  2019        PMID： 31063852      PMCID： PMC6544496          DOI： 10.1016/j.diabres.2019.04.017

Source DB:  PubMed          Journal:  Diabetes Res Clin Pract        ISSN： 0168-8227            Impact factor:   5.602


  25 in total

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Authors:  H U Irgens; J Molnes; B B Johansson; M Ringdal; T Skrivarhaug; D E Undlien; O Søvik; G Joner; A Molven; P R Njølstad
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3.  Human Gene Mutation Database (HGMD): 2003 update.

Authors:  Peter D Stenson; Edward V Ball; Matthew Mort; Andrew D Phillips; Jacqueline A Shiel; Nick S T Thomas; Shaun Abeysinghe; Michael Krawczak; David N Cooper
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4.  Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.

Authors:  R Barrio; C Bellanné-Chantelot; J C Moreno; V Morel; H Calle; M Alonso; C Mustieles
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5.  Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Authors:  Jørn V Sagen; Lise Bjørkhaug; Janne Molnes; Helge Raeder; Louise Grevle; Oddmund Søvik; Anders Molven; Pål R Njølstad
Journal:  Pediatr Diabetes       Date:  2008-04-09       Impact factor: 4.866

6.  Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

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Journal:  Pediatr Diabetes       Date:  2009-03-02       Impact factor: 4.866

7.  High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

Authors:  O Massa; F Meschi; A Cuesta-Munoz; A Caumo; F Cerutti; S Toni; V Cherubini; L Guazzarotti; N Sulli; F M Matschinsky; R Lorini; D Iafusco; F Barbetti
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8.  Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign.

Authors:  W Fendler; M Borowiec; A Baranowska-Jazwiecka; A Szadkowska; E Skala-Zamorowska; G Deja; P Jarosz-Chobot; I Techmanska; J Bautembach-Minkowska; M Mysliwiec; A Zmyslowska; I Pietrzak; M T Malecki; W Mlynarski
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Review 9.  MODY: history, genetics, pathophysiology, and clinical decision making.

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Journal:  Diabetes Care       Date:  2011-08       Impact factor: 19.112

10.  Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.

Authors:  S Ellard; C Bellanné-Chantelot; A T Hattersley
Journal:  Diabetologia       Date:  2008-02-23       Impact factor: 10.122
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  3 in total

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2.  Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Authors:  Wendy K Chung; Karel Erion; Jose C Florez; Andrew T Hattersley; Marie-France Hivert; Christine G Lee; Mark I McCarthy; John J Nolan; Jill M Norris; Ewan R Pearson; Louis Philipson; Allison T McElvaine; William T Cefalu; Stephen S Rich; Paul W Franks
Journal:  Diabetologia       Date:  2020-09       Impact factor: 10.122

3.  Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

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  3 in total

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