Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10281803

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FF - ORL, oftalmologie, stomatologie

OECD FORD obor

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Projekt

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Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Vision

ISSN

1090-0535

e-ISSN

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Svazek periodika

20

Číslo periodika v rámci svazku

Sep

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

11

Strana od-do

1307-1317

Kód UT WoS článku

000341977000002

EID výsledku v databázi Scopus

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