OPA1 analysis in an international series of probands with bilateral optic atrophy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10363999" target="_blank" >RIV/00216208:11110/17:10363999 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10363999
Result on the web
<a href="http://dx.doi.org/10.1111/aos.13285" target="_blank" >http://dx.doi.org/10.1111/aos.13285</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/aos.13285" target="_blank" >10.1111/aos.13285</a>
Alternative languages
Result language
angličtina
Original language name
OPA1 analysis in an international series of probands with bilateral optic atrophy
Original language description
PurposeTo determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada. MethodsOPA1 coding regions and flanking intronic sequences were screened by direct sequencing in 82 probands referred with a diagnosis of bilateral optic atrophy. Detected rare variants were assessed for pathogenicity by in silico analysis. Segregation of the identified variants was performed in available first degree relatives. ResultsA total of 29 heterozygous mutations evaluated as pathogenic were identified in 42 probands, of these seven were novel. In two probands, only variants of unknown significance were found. 76% of pathogenic mutations observed in 30 (71%) of 42 probands were evaluated to lead to unstable transcripts resulting in haploinsufficiency. Three probands with the following disease-causing mutations c.1230+1G>A, c.1367G>A and c.2965dup were documented to suffer from hearing loss and/or neurological impairment. ConclusionsOPA1 gene screening in patients with bilateral optic atrophy is an important part of clinical evaluation as it may establish correct clinical diagnosis. Our study expands the spectrum of OPA1 mutations causing dominant optic atrophy and supports the fact that haploinsufficiency is the most common disease mechanism.
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
30207 - Ophthalmology
Result continuities
Project
<a href="/en/project/NV16-32341A" target="_blank" >NV16-32341A: Mitochondrial diseases with ocular involvement – study of risk factors and optimization of diagnosis and management strategy</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Ophthalmologica
ISSN
1755-375X
e-ISSN
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Volume of the periodical
95
Issue of the periodical within the volume
4
Country of publishing house
DK - DENMARK
Number of pages
7
Pages from-to
363-369
UT code for WoS article
000403361300030
EID of the result in the Scopus database
2-s2.0-85005990770