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

2020 ◽  
Vol 21 (6) ◽  
pp. 942-944
Author(s):  
Janel D. Hunter ◽  
Hope Staton ◽  
Cathrine Constantacos ◽  
Elizabeth T. Walsh ◽  
David F. Crudo
Keyword(s):  
Gene Mutation ◽  
Clinical Phenotype ◽  
Glucokinase Gene

Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada

2007 ◽  
Vol 90 (1) ◽  
pp. 87-92 ◽  
Author(s):  
Mélanie Henderson ◽  
Emile Levy ◽  
Edgard Delvin ◽  
Monique Losekoot ◽  
Marie Lambert
Keyword(s):  
Gene Mutation ◽  
Clinical Phenotype ◽  
French Canadians ◽  
Glucokinase Gene

scholarly journals Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

2020 ◽  
Vol 8 ◽  
Author(s):  
Zhongling KE ◽  
Yanhui CHEN
Keyword(s):  
Retinal Detachment ◽  
Gene Mutation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Neurodevelopmental Disorder ◽  
Genetic Diagnosis ◽  
Spastic Diplegia ◽  
Rehabilitation Training ◽  
Asian Patients ◽  
Insight Into

CTNNB1 gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of CTNNB1 mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental disorder caused by a mutation of CTNNB1. The child had dysmorphic features, microcephaly, hypotonia, polydactyly, retinal detachment, and neurodevelopmental disorder, with a de novo mutation of CTNNB1 c.1603C > T, p.R535X. The patient was diagnosed as Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) and was given rehabilitation training. After 4 months of rehabilitation training, she improved in gross motor function. We found that CTNNB1 mutation can cause neurodevelopmental disorder, which could be accompanied by retinal detachment and polydactyly. The retinal detachment had only been reported in two Asian patients, and we firstly reported the phenotype of polydactyly in the CTNNB1 mutation. This report not only helps to expand the clinical phenotype spectrum of the CTNNB1 gene mutation but also prompts a new insight into genetic diagnosis in patients with a neurodevelopmental disorder, retinal detachment, and polydactyly.

Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation

2012 ◽  
Vol 25 (7-8) ◽  
Author(s):  
Erdem Durmaz ◽  
Sarah Flanagan ◽  
Afig Berdeli ◽  
Serap Semiz ◽  
Sema Akcurin ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Age At Diagnosis ◽  
Glucokinase Gene

Glucokinase Gene Mutation Screening in Argentinean Clinically Characterized MODY Patients

2009 ◽  
Vol 117 (08) ◽  
pp. 391-394 ◽  
Author(s):  
A. Lopez ◽  
S. Foscaldi ◽  
M. Pérez ◽  
G. Krochik ◽  
M. Rodríguez ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Glucokinase Gene

scholarly journals A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance

2017 ◽  
Vol Volume 10 ◽  
pp. 77-80
Author(s):  
Andrey Emelyanov ◽  
Elena Sechko ◽  
Ekaterina Koksharova ◽  
Igor Sklyanik ◽  
Tamara Kuraeva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Resistance ◽  
Gene Mutation ◽  
Glucokinase Gene

scholarly journals Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

2020 ◽  
Vol 54 (1) ◽  
pp. 33-38
Author(s):  
Justyna Kaczyńska ◽  
Zygmunt Jamrozik ◽  
Michał Szubiga ◽  
Monika Rudzińska-Bar ◽  
Piotr Janik
Keyword(s):  
Gene Mutation ◽  
Clinical Phenotype ◽  
Phenotype Heterogeneity

Glucokinase gene mutation and impaired glucose uptake by liver

The Lancet ◽  
1993 ◽  
Vol 341 (8859) ◽  
pp. 1532-1533 ◽  
Author(s):  
H. Sakura ◽  
R. Kawamori ◽  
M. Kubota ◽  
T. Morishima ◽  
T. Kamada ◽  
...  
Keyword(s):  
Glucose Uptake ◽  
Gene Mutation ◽  
Glucokinase Gene

scholarly journals Clinical phenotype associated with TANGO2 gene mutation

2020 ◽  
Author(s):  
C. Hoebeke ◽  
A. Cano ◽  
P. De Lonlay ◽  
B. Chabrol
Keyword(s):  
Gene Mutation ◽  
Clinical Phenotype
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