Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization

2017 ◽  
Vol 86 (6) ◽  
pp. 778-783 ◽  
Author(s):  
Rosa Martínez ◽  
Ángel Gutierrez-Nogués ◽  
Concepción Fernández-Ramos ◽  
Teresa Velayos ◽  
Amaia Vela ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Glucokinase Mutations

scholarly journals Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial Dysplasia

2021 ◽  
Author(s):  
Lei Gong ◽  
Bekzod Odilov ◽  
Feng Han ◽  
Fuqiang Liu ◽  
Yujing Sun ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
De Novo ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Functional Characterization ◽  
Sporadic Case ◽  
Luciferase Assay ◽  
Cleidocranial Dysplasia ◽  
Wild Type ◽  
Bone And Cartilage Development

Abstract BackgroundCleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in Runt-related Transcription Factor 2 (RUNX2) gene. In this study, we report a case with typical CCD presentations. MethodsWe performed genetic testing of participants and found a novel RUNX2 frameshift mutation: c.1550delT in a sporadic case. We also compared the functional activity of the mutant and wild-type RUNX2 through immunofluorescence microscopy and osteocalcin promoter luciferase assay. ResultsBoth mutant RUNX2 and wild‑type RUNX2 protein were similarly confined in the nuclei. The novel mutation caused abrogative transactivation activity of RUNX2 on osteocalcin promoter. ConclusionsWe explored a novel RUNX2 deletion/frameshift mutation in a sporadic CCD patient. This finding emphasizes on crucial role of VWRPY domain in RUNX2 transactivation ability.

A novel mutation in CD40 and its functional characterization

2009 ◽  
Vol 30 (6) ◽  
pp. 985-994 ◽  
Author(s):  
Chun-Jian Qi ◽  
Lu Zheng ◽  
Hong-Bing Ma ◽  
Min Fei ◽  
Ke-Qing Qian ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization

scholarly journals Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

2021 ◽  
Vol 12 ◽  
Author(s):  
Feng Jiang ◽  
Jing Yan ◽  
Rong Zhang ◽  
Xiaojing Ma ◽  
Yuqian Bao ◽  
...  
Keyword(s):  
Thermal Stability ◽  
Stability Analysis ◽  
Novel Mutation ◽  
Functional Characterization ◽  
Heterozygous Mutation ◽  
The Novel ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Whole Exome

BackgroundGlucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to glucokinase deficiency and hyperglycemia.MethodsThirty early-onset diabetes pedigrees were referred to whole exome sequencing for novel mutations identification. Purified wild-type and mutant GCK proteins were obtained from E.coli systems and then subjected to the kinetic and thermal stability analysis to test the effects on GCK activity.ResultsOne novel missense mutation GCK p.Ala259Thr was identified and co-segregated with diabetes in a Chinese MODY2 pedigree. The kinetic analysis showed that this mutation result in a decreased affinity and catalytic capability for glucose. The thermal stability analysis also indicated that the mutant protein presented dramatically decreased activity at the same temperature.ConclusionOur study firstly identified a novel MODY2 mutation p.Ala259Thr in Chinese diabetes pedigrees. The kinetic and thermal stability analysis confirmed that this mutation caused hyperglycemia through severely damaging the enzyme activities and protein stability.

scholarly journals Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 417-417
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

scholarly journals Biochemical and Functional Characterization of a Novel Mutation in the NADPH Cytochrome P450 Oxidoreductase

2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Amit V Pandey ◽  
Sara Benito‐Sanz ◽  
Shaheena Parween ◽  
Juan‐Pedro López‐Siguero ◽  
Núria Camats ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Novel Mutation ◽  
Functional Characterization ◽  
P450 Oxidoreductase ◽  
Nadph Cytochrome ◽  
Cytochrome P450 Oxidoreductase

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

1999 ◽  
Vol 868 (1 MOLECULAR AND) ◽  
pp. 442-446 ◽  
Author(s):  
ALEXANDER SPAUSCHUS ◽  
LOUISE EUNSON ◽  
MICHAEL G. HANNA ◽  
DIMITRI M. KULLMANN
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 387-392 ◽  
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction
Sign in / Sign up

Export Citation Format

Share Document