A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11110/20:10412937
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
Original language description
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 > 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
<a href="/en/project/NV17-30500A" target="_blank" >NV17-30500A: Congenital cataracts - next-generation sequencing in diagnosis and management</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Ophthalmic Genetics
ISSN
1381-6810
e-ISSN
—
Volume of the periodical
41
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
131-134
UT code for WoS article
000524666800001
EID of the result in the Scopus database
2-s2.0-85082659549