Matches in SemOpenAlex for { <https://semopenalex.org/work/W4311153963> ?p ?o ?g. }
- W4311153963 endingPage "15748" @default.
- W4311153963 startingPage "15748" @default.
- W4311153963 abstract "Hearing loss is one of the most genetically heterogeneous disorders known. Over 120 genes are reportedly associated with non-syndromic hearing loss (NSHL). To date, in Russia, there have been relatively few studies that apply massive parallel sequencing (MPS) methods to elucidate the genetic factors underlying non-GJB2-related hearing loss cases. The current study is intended to provide an understanding of the mutation spectrum in non-GJB2-related hearing loss in a cohort of Russian sensorineural NSHL patients and establish the best diagnostic algorithm. Genetic testing using an MPS panel, which included 33 NSHL and syndromic hearing loss (SHL) genes that might be misdiagnosed as NSHL genes, was completed on 226 sequentially accrued and unrelated patients. As a result, the molecular basis of deafness was found in 21% of the non-GJB2 NSHL cases. The total contribution pathogenic, and likely pathogenic, variants in the genes studied among all hereditary NSHL Russian patients was 12%. STRC pathogenic and likely pathogenic, variants accounted for 30% of diagnoses in GJB2-negative patients, providing the most common diagnosis. The majority of causative mutations in STRC involved large copy number variants (CNVs) (80%). Among the point mutations, the most common were c.11864G>A (p.Trp3955*) in the USH2A gene, c.2171_2174delTTTG (p.Val724Glyfs*6) in the STRC gene, and c.107A>C (p.His36Pro) and c.1001G>T (p.Gly334Val) in the SLC26A4 gene. Pathogenic variants in genes involved in SHL accounted for almost half of the cases with an established molecular genetic diagnosis, which were 10% of the total cohort of patients with non-GJB2-related hearing loss." @default.
- W4311153963 created "2022-12-24" @default.
- W4311153963 creator A5002269931 @default.
- W4311153963 creator A5018741210 @default.
- W4311153963 creator A5023183454 @default.
- W4311153963 creator A5025515681 @default.
- W4311153963 creator A5025664474 @default.
- W4311153963 creator A5026935395 @default.
- W4311153963 creator A5032092238 @default.
- W4311153963 creator A5057812292 @default.
- W4311153963 creator A5059429935 @default.
- W4311153963 creator A5071621272 @default.
- W4311153963 creator A5075900681 @default.
- W4311153963 creator A5076294686 @default.
- W4311153963 creator A5078896276 @default.
- W4311153963 creator A5086531842 @default.
- W4311153963 creator A5090304361 @default.
- W4311153963 date "2022-12-12" @default.
- W4311153963 modified "2023-09-25" @default.
- W4311153963 title "Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel" @default.
- W4311153963 cites W1565827052 @default.
- W4311153963 cites W1600952836 @default.
- W4311153963 cites W1995773545 @default.
- W4311153963 cites W2025924115 @default.
- W4311153963 cites W2039686145 @default.
- W4311153963 cites W2051978340 @default.
- W4311153963 cites W2077244817 @default.
- W4311153963 cites W2092890929 @default.
- W4311153963 cites W2117578488 @default.
- W4311153963 cites W2134206551 @default.
- W4311153963 cites W2148872965 @default.
- W4311153963 cites W2151377699 @default.
- W4311153963 cites W2265930544 @default.
- W4311153963 cites W2268480090 @default.
- W4311153963 cites W2293733321 @default.
- W4311153963 cites W2341415698 @default.
- W4311153963 cites W2342765976 @default.
- W4311153963 cites W2419092819 @default.
- W4311153963 cites W2462549196 @default.
- W4311153963 cites W2605957790 @default.
- W4311153963 cites W2767814427 @default.
- W4311153963 cites W2769914490 @default.
- W4311153963 cites W2791123770 @default.
- W4311153963 cites W2796529267 @default.
- W4311153963 cites W2898086374 @default.
- W4311153963 cites W2952683165 @default.
- W4311153963 cites W3029376403 @default.
- W4311153963 cites W3042286073 @default.
- W4311153963 cites W3110933061 @default.
- W4311153963 cites W3188107215 @default.
- W4311153963 cites W3194084757 @default.
- W4311153963 cites W4224139786 @default.
- W4311153963 doi "https://doi.org/10.3390/ijms232415748" @default.
- W4311153963 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36555390" @default.
- W4311153963 hasPublicationYear "2022" @default.
- W4311153963 type Work @default.
- W4311153963 citedByCount "1" @default.
- W4311153963 countsByYear W43111539632023 @default.
- W4311153963 crossrefType "journal-article" @default.
- W4311153963 hasAuthorship W4311153963A5002269931 @default.
- W4311153963 hasAuthorship W4311153963A5018741210 @default.
- W4311153963 hasAuthorship W4311153963A5023183454 @default.
- W4311153963 hasAuthorship W4311153963A5025515681 @default.
- W4311153963 hasAuthorship W4311153963A5025664474 @default.
- W4311153963 hasAuthorship W4311153963A5026935395 @default.
- W4311153963 hasAuthorship W4311153963A5032092238 @default.
- W4311153963 hasAuthorship W4311153963A5057812292 @default.
- W4311153963 hasAuthorship W4311153963A5059429935 @default.
- W4311153963 hasAuthorship W4311153963A5071621272 @default.
- W4311153963 hasAuthorship W4311153963A5075900681 @default.
- W4311153963 hasAuthorship W4311153963A5076294686 @default.
- W4311153963 hasAuthorship W4311153963A5078896276 @default.
- W4311153963 hasAuthorship W4311153963A5086531842 @default.
- W4311153963 hasAuthorship W4311153963A5090304361 @default.
- W4311153963 hasBestOaLocation W43111539631 @default.
- W4311153963 hasConcept C104317684 @default.
- W4311153963 hasConcept C2780493683 @default.
- W4311153963 hasConcept C2908647359 @default.
- W4311153963 hasConcept C501734568 @default.
- W4311153963 hasConcept C54355233 @default.
- W4311153963 hasConcept C548259974 @default.
- W4311153963 hasConcept C71924100 @default.
- W4311153963 hasConcept C86803240 @default.
- W4311153963 hasConcept C99454951 @default.
- W4311153963 hasConceptScore W4311153963C104317684 @default.
- W4311153963 hasConceptScore W4311153963C2780493683 @default.
- W4311153963 hasConceptScore W4311153963C2908647359 @default.
- W4311153963 hasConceptScore W4311153963C501734568 @default.
- W4311153963 hasConceptScore W4311153963C54355233 @default.
- W4311153963 hasConceptScore W4311153963C548259974 @default.
- W4311153963 hasConceptScore W4311153963C71924100 @default.
- W4311153963 hasConceptScore W4311153963C86803240 @default.
- W4311153963 hasConceptScore W4311153963C99454951 @default.
- W4311153963 hasIssue "24" @default.
- W4311153963 hasLocation W43111539631 @default.
- W4311153963 hasLocation W43111539632 @default.
- W4311153963 hasLocation W43111539633 @default.
- W4311153963 hasLocation W43111539634 @default.