Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients

1999 ◽  
Vol 49 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Vaidutis Kučinskas ◽  
AnnetteM. Payne ◽  
Daiva Ambrasienė ◽  
Vaclovas Jurgelevičius ◽  
Danguolė Steponavičiūtė ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Autosomal Dominant Retinitis Pigmentosa

scholarly journals Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Liu ◽  
Ruru Guo ◽  
Huijie Hao ◽  
Jian Ji
Keyword(s):  
Retinitis Pigmentosa ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Bioinformatics Analysis ◽  
Molecular Genetic ◽  
Chinese Family ◽  
Graphic System ◽  
Multiple Sequence ◽  
Target Region ◽  
Autosomal Dominant Retinitis Pigmentosa

Abstract Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate the mutation. Multiple sequence alignment from different species was performed by CLUSTALW. The structures of wild-type and the mutant RHO were modeled by Swiss-Model Server and shown using a PyMOL Molecular Graphic system. Results A novel heterozygous nonsense mutation (c.1015 A > T, p.Lys339Ter, p.K339X) within RHO, which cosegregated with retinitis pigmentosa phenotype was detected in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic. Conclusions We identified a novel heterozygous nonsense mutation of RHO gene in a Chinese family with retinitis pigmentosa by target region sequencing and our bioinformatics analysis indicated that the mutation is pathogenic. Our results can broaden the spectrum of RHO gene mutation and enrich the phenotype-genotype correlation of retinitis pigmentosa.

A Clinical and Molecular Genetic Study of Autosomal-Dominant Stromal Corneal Dystrophy in British Population

2005 ◽  
Vol 37 (6) ◽  
pp. 310-317 ◽  
Author(s):  
Mohamed Farouk EL-Ashry ◽  
Mai Mohamed Abd El-Aziz ◽  
Alison J. Hardcastle ◽  
Shomi S. Bhattacharya ◽  
Neil D. Ebenezer
Keyword(s):  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Corneal Dystrophy ◽  
Molecular Genetic Study

scholarly journals MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia

2009 ◽  
Vol 55 (3) ◽  
pp. 3-7 ◽  
Author(s):  
I I Dedov ◽  
Natal'ya Anatol'evna Zubkova ◽  
N Yu Arbatskaya ◽  
A G Akopova ◽  
A N Tyul'pakov
Keyword(s):  
Genetic Study ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Dominant Mode ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Molecular Genetic Study ◽  
Genetic Characteristics ◽  
Molecular Bases

Maturity-onset diabetes of the young (MODY) is a clinically heterogenic group of diseases, with an autosomal dominant mode of inheritance and gene mutations resulting in dysfunction of pancreatic β cells. The type of diabetes and further treatment policy can be reliably determined on the basis of the data of a molecular genetic study that confirms gene mutations. Today there are known mutations of 8 genes, of which glucokinase (GCK) gene mutation that leads to the development of MODY2 and occurs most frequently. The spread of this mutation among DM patients in our country has not been studied. The diagnosis of MODY2 was established in 13 members of 5 families with the clinical picture typical of this type. The molecular genetic study revealed 4 new and 1 earlier described mutations. The findings extend ideas on the molecular bases of MODY, which creates conditions for improving the diagnosis of this disease, genetic counseling and the development of pathogenetically founded approaches to treatment.

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