Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10281803" target="_blank" >RIV/00216208:11110/14:10281803 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/14:10281803
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169777/" target="_blank" >http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169777/</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene
Original language description
Purpose: To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women. Methods: Comprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely affected, autosomal dominant inheritance was suspected, and screening for known mutations by genotyping microarray was performed. Subsequently, direct sequencing of ORF15 RPGR was undertaken. Results: Eighteen family members (nine women and nine men) were examined. A pathogenic variant, c.2543del in ORF15 of RPGR, was found to segregate with disease. The oldest woman and her two sisters had no perception of light in their sixth decade. Four women and five men had signs and symptoms of typical XLRP, including moderate to high myopia. Three other women also had moderate to high myopia and myopic asti
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Vision
ISSN
1090-0535
e-ISSN
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Volume of the periodical
20
Issue of the periodical within the volume
Sep
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
1307-1317
UT code for WoS article
000341977000002
EID of the result in the Scopus database
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