scholarly journals A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

2002 ◽  
Vol 86 (3) ◽  
pp. 328-332 ◽  
Author(s):  
K Dietrich
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Autosomal Dominant Retinitis Pigmentosa

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.

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

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

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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