scholarly journals Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

2020 ◽  
Vol 11 ◽  
Author(s):  
Nan Wu ◽  
Lili Tang ◽  
Xiuxiu Li ◽  
Yuwei Dai ◽  
Xiaodong Zheng ◽  
...  
Keyword(s):  
Correlation Analysis ◽  
Novel Mutation ◽  
Chinese Family ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

Brain ◽  
2014 ◽  
Vol 138 (2) ◽  
pp. e327-e327 ◽  
Author(s):  
Daniel Carvalho ◽  
Savana Santos ◽  
Bernardo Martins ◽  
Fernanda Pinto Marques
Keyword(s):  
Basal Ganglia ◽  
Novel Mutation ◽  
Phenotype Correlation ◽  
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 A Novel Mutation ofSMAD3Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Wenwen Zhang ◽  
Min Zhou ◽  
Cheng Liu ◽  
Chen Liu ◽  
Tong Qiao ◽  
...  
Keyword(s):  
Signal Transduction ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phenotype Correlation ◽  
Autosomal Dominant Disorder ◽  
Arterial Tree ◽  
Craniofacial Features

Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations inSMAD3, a key regulator of TGF-βsignal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novelSMAD3mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum ofSMAD3gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype andSMAD3mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

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.

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
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