A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F20%3A10412937" target="_blank" >RIV/00064165:_____/20:10412937 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/20:10412937

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ZD4q9XjIV9" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ZD4q9XjIV9</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/13816810.2020.1737950" target="_blank" >10.1080/13816810.2020.1737950</a>

Jazyk výsledku

angličtina

Název v původním jazyce

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Popis výsledku v původním jazyce

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family. Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family. Results: A novel missense variant c.388C &gt; T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families. Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.

Název v anglickém jazyce

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Popis výsledku anglicky

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family. Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family. Results: A novel missense variant c.388C &gt; T; p.(R130C) was identified in the Lens integral membrane protein (LIM2) and found to co-segregate with disease in both families. Conclusions: Here we report the first autosomal dominant congenital cataract variant p.(R130C) in LIM2, causing a non-syndromic pulverulent and nuclear phenotype in European families.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10600 - Biological sciences

Projekt

<a href="/cs/project/NV17-30500A" target="_blank" >NV17-30500A: Kongenitalni katarakty - využití metod sekvenování nové generace v diagnostickém a léčebném algoritmu</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Ophthalmic Genetics

ISSN

1381-6810

e-ISSN

—

Svazek periodika

41

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

131-134

Kód UT WoS článku

000524666800001

EID výsledku v databázi Scopus

2-s2.0-85082659549