Pathogenicity of a glucokinase gene mutation and description of its clinical phenotype.

Abstract:

:Glucokinase gene (GCK) mutations comprise approximately 10% of cases of maturity-onset diabetes of the young (MODY). Over 800 different mutations in GCK have been reported in the Human Gene Mutation Database, the vast majority of which result in MODY type 2. The missense mutation p.Leu122Val is listed in that database as "disease-causing;" however, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain significance." Both databases reference the same Italian pediatric patient reported by Massa et al in 2001, but no phenotypic description of the patient is included in the original article. We report a pedigree of three patients over two generations affected with GCK mutation c.364C > G (p.Leu122Val) to support the clinical significance of this mutation and to provide the first phenotypic description of patients with this particular mutation.

journal_name

Pediatr Diabetes

journal_title

Pediatric diabetes

authors

Hunter JD,Staton H,Constantacos C,Walsh ET,Crudo DF

doi

10.1111/pedi.13058

subject

Has Abstract

pub_date

2020-09-01 00:00:00

pages

942-944

issue

6

eissn

1399-543X

issn

1399-5448

journal_volume

21

pub_type

  • Type 1 diabetes and epilepsy in childhood and adolescence: Do glutamic acid decarboxylase autoantibodies play a role? Data from the German/Austrian/Swiss/Luxembourgian DPV Registry.

    abstract:AIMS:We aimed to analyze the relationship between epilepsy and glutamic acid decarboxylase autoantibodies (GADA) in patients with type 1 diabetes mellitus (T1DM) and the impact of GADA on demographic, clinical, and metabolic data in T1DM patients with epilepsy. METHODS:We searched for patients with T1DM ≤20 years and ...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.13034

    authors: de Sousa GJ,Tittel SR,Häusler M,Holterhus PM,Berger G,Holder M,Kamrath C,Golembowski S,Herrlinger S,Holl RW

    更新日期:2020-08-01 00:00:00

  • Safety and efficacy of autoantigen-specific therapy with 2 doses of alum-formulated glutamate decarboxylase in children with multiple islet autoantibodies and risk for type 1 diabetes: A randomized clinical trial.

    abstract:OBJECTIVE:Treatments have failed to delay or stop the autoimmune process, preceding onset of type 1 diabetes. We investigated if autoantigen-specific treatment with alum-formulated glutamate decarboxylase (GAD-Alum) was safe and affected progression to type 1 diabetes in children with islet autoimmunity. METHODS:In an...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/pedi.12611

    authors: Elding Larsson H,Lundgren M,Jonsdottir B,Cuthbertson D,Krischer J,DiAPREV-IT Study Group.

    更新日期:2018-05-01 00:00:00

  • Imbalance of bacteriome profiles within the Finnish Diabetes Prediction and Prevention study: Parallel use of 16S profiling and virome sequencing in stool samples from children with islet autoimmunity and matched controls.

    abstract:BACKGROUND:We set out to explore associations between the stool bacteriome profiles and early-onset islet autoimmunity, taking into account the interactions with the virus component of the microbiome. METHODS:Serial stool samples were longitudinally collected from 18 infants and toddlers with early-onset islet autoimm...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章,多中心研究

    doi:10.1111/pedi.12468

    authors: Cinek O,Kramna L,Lin J,Oikarinen S,Kolarova K,Ilonen J,Simell O,Veijola R,Autio R,Hyöty H

    更新日期:2017-11-01 00:00:00

  • Gender differences in the relationship between parental report of self-regulation skills and adolescents' management of type 1 diabetes.

    abstract:OBJECTIVE:To examine the extent to which self-regulation skills of adolescents with type 1 diabetes (T1D), including executive functioning and emotion regulation, relate to treatment adherence and glycemic control. METHOD:Participants were 109 adolescents aged 12-18 yr with TID and their primary caregiver who attended...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/j.1399-5448.2010.00692.x

    authors: Graziano PA,Geffken GR,Williams LB,Lewin AB,Duke DC,Storch EA,Silverstein JH

    更新日期:2011-06-01 00:00:00

  • Comparison of the effectiveness of simple carbohydrates on hypoglycemic episodes in children and adolescents with type 1 diabetes mellitus: A randomized study in a diabetes camp.

    abstract:BACKGROUND:Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents. O...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.13077

    authors: Erbas IM,Abaci A,Anik A,Simsek E,Tuhan HU,Kocyigit C,Yıldız M,Dundar BN,Bober E,Catli G

    更新日期:2020-07-13 00:00:00

  • Self-management among pre-teen and adolescent diabetes device users.

    abstract:OBJECTIVE:Despite increased diabetes device use, few adolescents with type 1 diabetes (T1D) meet glycemic targets. We examine associations between utilization of insulin pumps and continuous glucose monitoring (CGM) and glycemic control. RESEARCH DESIGN AND METHODS:This prospective cohort study included 80 youths (10-...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.13131

    authors: Faulds ER,Hoffman RP,Grey M,Tan A,Tubbs-Cooley H,Militello LK,Happ MB

    更新日期:2020-12-01 00:00:00

  • First test effect in intravenous glucose tolerance testing.

    abstract:AIMS:Intravenous glucose tolerance testing (IVGTT) is a common test of β-cell function in which a glucose load is administered and insulin and/or C-peptide responses are monitored. Since the first IVGTT may be more stressful and stress may alter β-cell secretion or hepatic insulin extraction, we asked whether there was...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12064

    authors: Ismail HM,White KS,Krischer JP,Chase HP,Cuthbertson D,Palmer JP,DPT-1 Study Group.

    更新日期:2015-03-01 00:00:00

  • A 10-yr follow-up study for the detection of peripheral neuropathy in young patients with type 1 diabetes.

    abstract:OBJECTIVE:The main objective of this work was to follow-up the development of diabetic neuropathy (DN) and its severity in patients with type 1 diabetes over 10 yr. Our intention was also to observe risk factor changes and verify which of them influence the development of neuropathy. The other objective was longitudina...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12382

    authors: Hajas G,Kissova V,Tirpakova A

    更新日期:2016-12-01 00:00:00

  • Triglyceride to high-density lipoprotein cholesterol ratio and carotid intima-medial thickness in Chinese adolescents with newly diagnosed type 2 diabetes mellitus.

    abstract:OBJECTIVE:To investigate the relationship between triglyceride to high-density lipoprotein cholesterol (TG/HDL-C) ratio and carotid intima-medial thickness (CIMT) in Chinese youth and adolescents with newly diagnosed type 2 diabetes mellitus (T2DM). METHODS:Ninety-eight subjects aged 10-24 yr with newly-diagnosed T2DM...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12250

    authors: Li X,Deng YP,Yang M,Wu YW,Sun SX,Sun JZ

    更新日期:2016-03-01 00:00:00

  • Metformin treatment to reduce central adiposity after prenatal growth restraint: a placebo-controlled pilot study in prepubertal children.

    abstract:BACKGROUND:Children born small-for-gestational-age (SGA) who experience rapid postnatal catch-up in weight are at risk for central adiposity and hyperinsulinemia. OBJECTIVES:To study the effects of prepubertal metformin intervention over 24 months on the body composition and endocrine-metabolic profile of catch-up SGA...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1111/pedi.12220

    authors: Díaz M,Bassols J,López-Bermejo A,de Zegher F,Ibáñez L

    更新日期:2015-11-01 00:00:00

  • Detection and treatment efficacy of hypoglycemic events in the everyday life of children younger than 7 yr.

    abstract:BACKGROUND:Mild hypoglycemia is commonly observed in children treated for type 1 diabetes mellitus (T1DM). Hypoglycemia disturbs cognition and learning. OBJECTIVE:To describe how and to what extent hypoglycemia in young children with T1DM is detected in everyday life. To learn how parents and caregivers treat hypoglyc...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12057

    authors: Sundberg F,Forsander G

    更新日期:2014-02-01 00:00:00

  • Relationship of adiponectin and leptin with autoimmunity in children with new-onset type 1 diabetes: a pilot study.

    abstract:AIM:To explore racial differences in adiponectin, and leptin and their relationship with islet autoimmunity in children with new-onset type 1 diabetes (T1D). METHODS:Medical records were reviewed from a cohort of new-onset clinically diagnosed T1D subjects matched by race, age, gender, and year of diagnosis. Sera were...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

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    authors: Hecht Baldauff N,Tfayli H,Dong W,Arena VC,Gurtunca N,Pietropaolo M,Becker DJ,Libman IM

    更新日期:2016-06-01 00:00:00

  • Health-related quality of life in intensively treated young patients with type 1 diabetes.

    abstract::This study aimed to analyse the impact of the disease and treatment on health-related quality of life (HRQOL) in intensively treated young patients with diabetes. Our main hypothesis was that metabolic control, gender, age and socio-economic status predict HRQOL. All children and adolescents (n = 400, 191 girls) and p...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/j.1399-5448.2008.00496.x

    authors: Hanberger L,Ludvigsson J,Nordfeldt S

    更新日期:2009-09-01 00:00:00

  • Islet/pancreas transplantation: challenges for pediatrics.

    abstract::Beta cell replacement is a valid alternative to exogenous insulin injections to treat type 1 diabetic patients. The rate of success obtained after whole-pancreas transplantation, performed alone or in combination with kidney, and, as shown recently, by islet transplantation, justifies optimism and sets the stage for a...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1034/j.1399-5448.2002.30408.x

    authors: Bottino R,Balamurugan AN,Giannoukakis N,Trucco M

    更新日期:2002-12-01 00:00:00

  • Insulin pump use and discontinuation in children and teens: a population-based cohort study in Ontario, Canada.

    abstract:OBJECTIVE:To describe insulin pump use by youth since introduction of universal funding in Ontario, Canada and to explore the relationship between pump use and pediatric diabetes center characteristics and the relationship between discontinuation and center and patient characteristics. RESEARCH DESIGN AND METHODS:Obse...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12353

    authors: Shulman R,Stukel TA,Miller FA,Newman A,Daneman D,Guttmann A

    更新日期:2017-02-01 00:00:00

  • Characterization of proinsulin-specific regulatory T cells in type 1 diabetes at different ages of onset.

    abstract:BACKGROUND AND OBJECTIVES:Regulatory T cells (Tregs) play an important role in maintaining tolerance to self-antigens. Defects in the frequency and function of polyclonal Tregs have been reported in type 1 diabetes (T1D). However, characteristics of proinsulin (PI)-specific Tregs in human T1D have not yet been explored...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12813

    authors: Paul M,Dayal D,Bhansali A,Sachdeva N

    更新日期:2019-05-01 00:00:00

  • Treatment adherence and BMI reduction are key predictors of HbA1c 1 year after diagnosis of childhood type 2 diabetes in the United Kingdom.

    abstract:BACKGROUND/OBJECTIVE:Type 2 Diabetes (T2DM) is increasing in childhood especially among females and South-Asians. Our objective was to report outcomes from a national cohort of children and adolescents with T2DM 1 year following diagnosis. METHODS:Clinician reported, 1-year follow-up of a cohort of children (<17 years...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12761

    authors: Candler TP,Mahmoud O,Lynn RM,Majbar AA,Barrett TG,Shield JPH

    更新日期:2018-12-01 00:00:00

  • Clinical application of regulatory T cells in type 1 diabetes.

    abstract::Regulatory T cells (Tregs) are responsible for the maintenance of peripheral tolerance. Animal studies have shown that administration of Tregs can prevent type 1 diabetes (DM1). Several clinical trials attempted to induce Tregs with various agents, and thus provide long-term tolerance of β cells in DM1. Nevertheless, ...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章,评审

    doi:10.1111/pedi.12029

    authors: Marek-Trzonkowska N,Myśliwec M,Siebert J,Trzonkowski P

    更新日期:2013-08-01 00:00:00

  • Sleep coach intervention for teens with type 1 diabetes: Randomized pilot study.

    abstract:BACKGROUND:Teens with type 1 diabetes (T1D) experience increased sleep disturbances, which have been linked to problems with adherence and glycemic control. As such, sleep represents a novel target to improve outcomes in teens. OBJECTIVE:To evaluate the feasibility, acceptability, and preliminary efficacy of a sleep-p...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12991

    authors: Jaser SS,Hamburger ER,Bergner EM,Williams R,Slaughter JC,Simmons JH,Malow BA

    更新日期:2020-05-01 00:00:00

  • Use of CoZmonitor in youth with type 1 diabetes.

    abstract:BACKGROUND:The purpose of this study was to evaluate the effectiveness of directly integrating self-monitoring blood glucose (BG) information with insulin pump therapy on overall glycemic control. METHODS:In this randomized trial, 34 youth with type 1 diabetes using insulin pump therapy were trained on the use of the ...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1399-5448.2007.00268.x

    authors: Cobry E,Chase HP,Burdick P,McFann K,Yetzer H,Scrimgeour L

    更新日期:2008-04-01 00:00:00

  • Partial remission in Brazilian children and adolescents with type 1 diabetes. Association with a haplotype of class II human leukocyte antigen and synthesis of autoantibodies.

    abstract:OBJECTIVE:Characterization of partial remission using the insulin dose-adjusted HbA1c (IDAA1c) ≤ 9 definition in a multiethnic Brazilian population of children and adolescents with type 1 diabetes (T1D), in addition with the determination of both Class II HLA genotype and autoantibodies. METHODS:We analyzed the preval...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12999

    authors: Camilo DS,Pradella F,Paulino MF,Baracat ECE,Marini SH,Guerra G Jr,Pavin EJ,Parisi C,Longhini ALF,Marques SB,Guariento EG,Lieber SR,Macedo CF,Gama E Silva L,Farias AS,Santos LMB,Volpini WMG

    更新日期:2020-06-01 00:00:00

  • Achieving ADA/ISPAD clinical guideline goals is associated with higher insulin sensitivity and cardiopulmonary fitness in adolescents with type 1 diabetes: Results from RESistance to InSulin in Type 1 ANd Type 2 diabetes (RESISTANT) and Effects of MEtform

    abstract:OBJECTIVE:Most youth with type 1 diabetes do not meet the American Diabetes Association (ADA) and International Society for Pediatric and Adolescent Diabetes (ISPAD) targets for hemoglobin A1c (HbA1c), blood pressure (BP), lipids, and body mass index (BMI). We hypothesized that ISPAD/ADA goal achievement would be assoc...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12598

    authors: Bjornstad P,Cree-Green M,Baumgartner A,Coe G,Reyes YG,Schäfer M,Pyle L,Regensteiner JG,Reusch JE,Nadeau KJ

    更新日期:2018-05-01 00:00:00

  • Measurement site of visceral adipose tissue and prediction of metabolic syndrome in youth.

    abstract:OBJECTIVE:It is unknown whether measurement site of visceral adipose tissue (VAT) influences the relationship between VAT and associated health risk in youth and if so, whether ethnic differences exist in this relationship. We examined the influence of the measurement site of VAT on the relationships between VAT and me...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/j.1399-5448.2010.00705.x

    authors: Lee S,Kuk JL,Kim Y,Arslanian SA

    更新日期:2011-05-01 00:00:00

  • Hvidoere Smiley Faces: International diabetes quality of life assessment tool for young children.

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    journal_title:Pediatric diabetes

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1111/pedi.12602

    authors: Hoey H,Lange K,Skinner TC,Mortensen H,Swift P,Aanstoot HJ,Castaňo L,Cameron F,de Beaufort C,Hvidoere International Study Group.

    更新日期:2018-05-01 00:00:00

  • Skin and subcutaneous thickness at injecting sites in children with diabetes: ultrasound findings and recommendations for giving injection.

    abstract:BACKGROUND:Children who inject insulin need clear guidelines as to the length of needle best for them. We studied the distance from surface to muscle in children in order to make needle choices which are evidence-based. METHODS:One hundred one children with type 1 diabetes were divided into three groups according to a...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/j.1399-5448.2012.00865.x

    authors: Lo Presti D,Ingegnosi C,Strauss K

    更新日期:2012-11-01 00:00:00

  • The changing presentation of children with newly diagnosed type 1 diabetes mellitus.

    abstract::Although it is known that the incidence of type 1 diabetes mellitus (DM) in childhood is progressively increasing, it is less clear whether the presentation of newly diagnosed DM is changing. The aim of this study was to establish whether any biochemical or clinical presentation parameters have altered over time. A re...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1034/j.1399-5448.2001.20403.x

    authors: Jackson W,Hofman PL,Robinson EM,Elliot RB,Pilcher CC,Cutfield WS

    更新日期:2001-12-01 00:00:00

  • Atypical diabetes mellitus: time for a consensus?

    abstract::A subgroup of diabetic patients presents with features typical of type 1 diabetes, but over months to years has variable insulin requirements and develops features of type 2 diabetes. This subgroup is referred to as atypical diabetes mellitus (ADM). Over a span of 50 yr, reports on disease epidemiology, clinical chara...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1046/j.1399543x.2000.010409.x

    authors: Egede LE,Willi SM

    更新日期:2000-12-01 00:00:00

  • The IDF Life for a Child Program Index of diabetes care for children and youth.

    abstract:BACKGROUND AND OBJECTIVES:Care for children and youth with diabetes varies markedly around the world. We developed a standardized, reproducible measure that can be used to document and compare critical factors influencing treatment outcomes. METHODS:A questionnaire consisting of 36 multiple-choice questions covering m...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/pedi.12296

    authors: Ogle GD,Middlehurst AC,Silink M

    更新日期:2016-08-01 00:00:00

  • Long-chain polyunsaturated fatty acids in a diabetic teenager during and after nine repeated episodes of diabetic ketoacidosis.

    abstract::Type 1 diabetes is often accompanied with acute hypoinsulinemia that may theoretically inhibit the conversion of essential fatty acids to their longer-chain metabolites. Previously, we found significant reduction in plasma arachidonic (C20:4n-6) and docosahexaenoic (C22:6n-3) acid values in a group of diabetic childre...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1111/j.1399-5448.2008.00487.x

    authors: Szabó E,Marosvölgyi T,Kozári A,Erhardt E,Soltész G,Decsi T

    更新日期:2009-05-01 00:00:00

  • Intramyocellular lipid, adiposity, and muscle oxygen supply in prepubertal type 1 diabetes.

    abstract:BACKGROUND:In the non-diabetic population, intramyocellular lipid (IMCL) accumulation is associated with obesity and poor muscle oxygen supply. IMCL levels are increased in type 1 diabetes, but their significance is less clear. METHODS:We studied a group of 16 prepubertal boys (age 6.4-9.9 yr) with type 1 diabetes and...

    journal_title:Pediatric diabetes

    pub_type: 杂志文章

    doi:10.1034/j.1399-5448.2003.00021.x

    authors: Ling AH,Donaghue KC,Howard NJ,Arrowsmith FE,Ward JA,Baur LA,Thompson CH

    更新日期:2003-09-01 00:00:00