The role of exome data reanalysis in clarifying STXBP3 associated inflammatory bowel disease and hearing loss
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10499308" target="_blank" >RIV/00064203:_____/25:10499308 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10499308
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=MMLmTgNwpQ" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=MMLmTgNwpQ</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/gastro/goaf053" target="_blank" >10.1093/gastro/goaf053</a>
Alternative languages
Result language
angličtina
Original language name
The role of exome data reanalysis in clarifying STXBP3 associated inflammatory bowel disease and hearing loss
Original language description
Very-early onset inflammatory bowel disease (VEO-IBD) is a distinct form characterized by clinical symptoms appearing before the age of 6 years, with a high likelihood of monogenic etiology. In 2021, Ouahed et al. first identified association of pathogenic variants in the Syntaxin-binding protein 3 gene (STXBP3) with VEO-IBD and hearing impairment. This case is notable for the identification of a novel de novo STXBP3 variant through exome data re-analysis, highlighting the importance of genetic testing in VEO-IBD. Additionally, it showcases our clinical experience in managing a patient with this condition, who achieved disease remission with the current treatment regimen.
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
—
OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/LM2018132" target="_blank" >LM2018132: The National Center for Medical Genomic</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Gastroenterology Report
ISSN
2304-1412
e-ISSN
2052-0034
Volume of the periodical
13
Issue of the periodical within the volume
June
Country of publishing house
GB - UNITED KINGDOM
Number of pages
2
Pages from-to
goaf053
UT code for WoS article
001517205000001
EID of the result in the Scopus database
2-s2.0-105008719752