Genotype-phenotype correlation analysis in GNE myopathy

2017 ◽  
Vol 27 ◽  
pp. S149
Author(s):  
O. Pogoryelova ◽  
P. Cammish ◽  
H. Mansbach ◽  
H. Lochmüller
Keyword(s):  
Correlation Analysis ◽  
Phenotype Correlation ◽  
Gne Myopathy ◽  
Genotype Phenotype Correlation

Genotype-phenotype correlation analysis in GNE myopathy

2017 ◽  
Vol 27 ◽  
pp. S41
Author(s):  
O. Pogoryelova ◽  
P. Cammish ◽  
H. Mansbach ◽  
H. Lochmüller
Keyword(s):  
Correlation Analysis ◽  
Phenotype Correlation ◽  
Gne Myopathy ◽  
Genotype Phenotype Correlation

scholarly journals Large scale genotype phenotype correlation analysis based on phylogenetic trees

2007 ◽  
Vol 23 (7) ◽  
pp. 785-788 ◽  
Author(s):  
F. Habib ◽  
A. D. Johnson ◽  
R. Bundschuh ◽  
D. Janies
Keyword(s):  
Correlation Analysis ◽  
Phylogenetic Trees ◽  
Large Scale ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome

2021 ◽  
Author(s):  
Rie Asada Kitamura ◽  
Kristina Maxwell ◽  
Wenjuan Ye ◽  
Kelly Kries ◽  
Cris Brown ◽  
...  
Keyword(s):  
Stem Cell ◽  
Correlation Analysis ◽  
Combination Treatment ◽  
Disease Model ◽  
Wolfram Syndrome ◽  
Phenotype Correlation ◽  
Chemical Chaperones ◽  
Pathogenic Variants ◽  
Genotype Phenotype Correlation ◽  
Therapeutic Development

Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Recent genetic and clinical findings have revealed Wolfram syndrome as a spectrum disorder. Therefore, a genotype-phenotype correlation analysis is needed for diagnosis and therapeutic development. Here, we focus on the WFS1 c.1672C>T, p.R558C variant which is highly prevalent in the Ashkenazi-Jewish population. Clinical investigation indicates that subjects carrying the homozygous WFS1 c.1672C>T, p.R558C variant show mild forms of Wolfram syndrome phenotypes. Expression of WFS1 p.R558C is more stable compared to the other known recessive pathogenic variants associated with Wolfram syndrome. Stem cell-derived islets (SC-islets) homozygous for WFS1 c.1672C>T variant recapitulates genotype-related Wolfram phenotypes, which are milder than those of SC-islets with compound heterozygous WFS1 c.1672C>T (p.R558C), c.2654C>T (p.P885L). Enhancing residual WFS1 function by a combination treatment of chemical chaperones, sodium 4-phenylbutyrate (4-PBA) and tauroursodeoxycholic acid (TUDCA), mitigates detrimental effects caused by the WFS1 c.1672C>T, p.R558C variant and restored SC-islet function. Thus, the WFS1 c.1672C>T, p.R558C variant causes a mild form of Wolfram syndrome phenotypes, which can be remitted with a combination treatment of chemical chaperones. We demonstrate that our patient stem cell-derived disease model provides a valuable platform for further genotype-phenotype analysis and therapeutic development for Wolfram syndrome.

scholarly journals NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

PLoS ONE ◽  
2019 ◽  
Vol 14 (9) ◽  
pp. e0222506 ◽  
Author(s):  
Davide Gentilini ◽  
Antonino Oliveri ◽  
Teresa Fazia ◽  
Alessandro Pini ◽  
Susan Marelli ◽  
...  
Keyword(s):  
Correlation Analysis ◽  
Marfan Syndrome ◽  
Genetic Variants ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Common Genetic Variants
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