scholarly journals RHOMutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Satoshi Katagiri ◽  
Takaaki Hayashi ◽  
Masakazu Akahori ◽  
Takeshi Itabashi ◽  
Jo Nishino ◽  
...  
Keyword(s):  
Molecular Modeling ◽  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Conformational Transition ◽  
Novel Mutation ◽  
The Novel ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Modeling Analysis ◽  
Whole Exome ◽  
The Impact

Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP).Methods. Whole-exome sequence analysis was performed in ten adRP families. IdentifiedRHOmutations for the cosegregation analysis were confirmed by Sanger sequencing. Ophthalmic examinations were performed to evaluate the RP phenotypes. The impact of theRHOmutation on the rhodopsin conformation was examined by molecular modeling analysis.Results. In two adRP families, we identified twoRHOmutations (c.377G>T (p.W126L) and c.1036G>C (p.A346P)), one of which was novel. Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in both families. Molecular modeling predicted that the novel mutation (p.W126L) might impair rhodopsin function by affecting its conformational transition in the light-adapted form. Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP.Conclusions. Our findings demonstrated that the novel mutation (p.W126L) may be associated with the phenotype of sector RP. Identification ofRHOmutations is a very useful tool for predicting disease severity and providing precise genetic counseling.

scholarly journals A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Bing-Bing Guo ◽  
Jie-Yuan Jin ◽  
Zhuang-Zhuang Yuan ◽  
Lei Zeng ◽  
Rong Xiang
Keyword(s):  
Extracellular Matrix ◽  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Chinese Family ◽  
The Novel ◽  
Structure Model ◽  
Whole Exome ◽  
Nucleotide Mutation

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and tendons. Mutations in COMP are known to give rise to PSACH. In this study, we identified a novel nucleotide mutation (NM_000095.2: c.1317C>G, p.D439E) in COMP responsible for PSACH in a Chinese family by employing whole-exome sequencing (WES) and built the structure model of the mutant protein to clarify its pathogenicity. The novel mutation cosegregated with the affected individuals. Our study expands the spectrum of COMP mutations and further provides additional genetic testing information for other PSACH patients.

scholarly journals A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei-ning Li ◽  
Xiu-juan Du ◽  
Yu-ting Zhang ◽  
Le-yi Wang ◽  
Jing Zhu
Keyword(s):  
Visual Field ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Genetic Mutation ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
The Novel ◽  
Progressive Loss ◽  
Whole Exome ◽  
Transversion Mutation

Abstract Background Retinitis pigmentosa (RP) is a rare, progressive, and hereditary disorder that leads to the progressive loss of vision and visual field, and in some cases blindness. The specific relationship between RP and glaucoma has been debated for decades. Methods In this study, we examined a Han RP family with concomitant angle-closure glaucoma (ACG), performed an inductive analysis of their clinical features and assistant results, and applied whole-exome sequencing (WES) technology for a molecular diagnosis. Results A novel transversion mutation (c.626 T > A) was identified in the peripherin-2 (PRPH2) gene in the proband, resulting in the substitution of Valine to aspartic acid in codon 209. A full ophthalmic examination showed that the proband with the c.626 T > A mutation had a typical RP manifestation, with close angles; however, the proband’s elder brother, who lacked the novel mutation, had a normal fundus and open angles. Conclusion Our results extend the genetic mutation spectrum of PRPH2 in RP, and provide evidence to support a genetic correlation between RP and ACG.

scholarly journals A Novel Mutation in the PRPH2 Gene in a Chinese Pedigree with Retinitis Pigmentosa and Angle-closure Glaucoma

2021 ◽  
Author(s):  
Wei-ning Li ◽  
Xiu-juan Du ◽  
Yu-ting Zhang ◽  
Le-yi Wang ◽  
Jing Zhu
Keyword(s):  
Visual Field ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Genetic Mutation ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
The Novel ◽  
Progressive Loss ◽  
Whole Exome ◽  
Transversion Mutation

Abstract Background: Retinitis pigmentosa (RP) is a rare, progressive, and hereditary disorder that leads to the progressive loss of vision and visual field, and in some cases blindness. The specific relationship between RP and glaucoma has been debated for decades.Methods: In this study, we examined a Han RP family with concomitant angle-closure glaucoma (ACG), performed an inductive analysis of their clinical features and assistant results, and applied whole-exome sequencing (WES) technology for a molecular diagnosis. Results: A novel transversion mutation (c.626T>A) was identified in the peripherin-2 (PRPH2) gene in the proband, resulting in the substitution of tyrosine to aspartic acid in codon 209. A full ophthalmic examination showed that the proband with the c.626T>A mutation had a typical RP manifestation, with close angles; however, the proband’s elder brother, who lacked the novel mutation, had a normal fundus and open angles. Conclusion: Our results extend the genetic mutation spectrum of PRPH2 in RP, and provide evidence to support a genetic correlation between RP and ACG.

Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

Genomics ◽  
1992 ◽  
Vol 14 (3) ◽  
pp. 805-807 ◽  
Author(s):  
G. Jane Farrar ◽  
Paul Kenna ◽  
Siobhán A. Jordan ◽  
Rajendra Kumar-Singh ◽  
Marian M. Humphries ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Autosomal Dominant Retinitis Pigmentosa

scholarly journals Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

PLoS ONE ◽  
2015 ◽  
Vol 10 (7) ◽  
pp. e0133624 ◽  
Author(s):  
Berta Almoguera ◽  
Jiankang Li ◽  
Patricia Fernandez-San Jose ◽  
Yichuan Liu ◽  
Michael March ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Dominant ◽  
Lessons Learned ◽  
Initial Diagnosis ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Whole Exome

Autosomal dominant Retinitis Pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family

1992 ◽  
Vol 1 (9) ◽  
pp. 769-771 ◽  
Author(s):  
G. J. Farrar ◽  
J. B. C. Findlay ◽  
R. Kumar-Singh ◽  
P. Kenna ◽  
M. M. Humphries ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene
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