A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F24%3A10474397" target="_blank" >RIV/00669806:_____/24:10474397 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/24:10474397
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1WOQ9kT.-7" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1WOQ9kT.-7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41439-024-00263-2" target="_blank" >10.1038/s41439-024-00263-2</a>

Result language
angličtina
Original language name
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
Original language description
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics

Project
<a href="/en/project/LM2023067" target="_blank" >LM2023067: The National Center for Medical Genomic</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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