Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F13%3A10193313" target="_blank" >RIV/00064165:_____/13:10193313 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/13:10193313

Výsledek na webu

<a href="http://dx.doi.org/10.1001/jamaophthalmol.2013.405" target="_blank" >http://dx.doi.org/10.1001/jamaophthalmol.2013.405</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1001/jamaophthalmol.2013.405" target="_blank" >10.1001/jamaophthalmol.2013.405</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Popis výsledku v původním jazyce

The following 2 novel frameshift mutations within ZEB1 were identified: c.2617dup in exon 8 in a 22-year-old woman, considered to be most likely de novo in origin, and c.698dup in exon 6 in a 20-year-old man. The first patient had mild changes consistentwith PPCD and bilateral best-corrected visual acuity of 1.00. The corneal phenotype of the patient in the second case was more severe, with best-corrected visual acuity of 0.40 OD and 0.05 OS. Corneas of both probands were abnormally steep (keratometryreadings, flat }= 47.4 diopters [D] and steep }= 49.2 D) with increased pachymetry values but no pattern indicative of keratoconus. Specular microscopy in both patients revealed reduced endothelial cell density (range, 1055/mm(2) to 1655/mm(2)). Both probands had a history of surgery for inguinal hernia; the male patient also reported hydrocele. CONCLUSIONS AND RELEVANCE Nucleotide changes within the coding region of ZEB1 underlie the pathogenesis of PPCD in 4 of 23 Czech probands (17%).

Název v anglickém jazyce

Further Genetic and Clinical Insights of Posterior Polymorphous Corneal Dystrophy 3

Popis výsledku anglicky

The following 2 novel frameshift mutations within ZEB1 were identified: c.2617dup in exon 8 in a 22-year-old woman, considered to be most likely de novo in origin, and c.698dup in exon 6 in a 20-year-old man. The first patient had mild changes consistentwith PPCD and bilateral best-corrected visual acuity of 1.00. The corneal phenotype of the patient in the second case was more severe, with best-corrected visual acuity of 0.40 OD and 0.05 OS. Corneas of both probands were abnormally steep (keratometryreadings, flat }= 47.4 diopters [D] and steep }= 49.2 D) with increased pachymetry values but no pattern indicative of keratoconus. Specular microscopy in both patients revealed reduced endothelial cell density (range, 1055/mm(2) to 1655/mm(2)). Both probands had a history of surgery for inguinal hernia; the male patient also reported hydrocele. CONCLUSIONS AND RELEVANCE Nucleotide changes within the coding region of ZEB1 underlie the pathogenesis of PPCD in 4 of 23 Czech probands (17%).

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

<a href="/cs/project/GPP301%2F12%2FP591" target="_blank" >GPP301/12/P591: Identifikace a charakterizace nového genu pro endotelové dystrofie rohovky</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

JAMA Ophthalmology

ISSN

2168-6165

e-ISSN

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Svazek periodika

131

Číslo periodika v rámci svazku

10

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

1296-1303

Kód UT WoS článku

000325483400010

EID výsledku v databázi Scopus

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