scholarly journals Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness

1997 ◽  
Vol 81 (3) ◽  
pp. 207-213 ◽  
Author(s):  
P. Kenna ◽  
F. Mansergh ◽  
S. Millington-Ward ◽  
A. Erven ◽  
R. Kumar-Singh ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Sensorineural Deafness ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Genetic Characterisation

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.

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

Further Screening of the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

Genomics ◽  
1994 ◽  
Vol 21 (2) ◽  
pp. 461-463 ◽  
Author(s):  
Rajani Vaithinathan ◽  
Eliot L. Berson ◽  
Thaddeus P. Dryja
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Gene
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