FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3183649910> ?p ?o ?g. }

• W3183649910 endingPage "465" @default.
• W3183649910 startingPage "457" @default.
• W3183649910 abstract "Purpose Inherited retinal diseases (IRDs), encompassing many clinical entities affecting the retina, are classified as rare disorders. Their extreme heterogeneity made molecular screening in the era before next-generation sequencing (NGS) expensive and time-consuming. Since then, many NGS studies of IRD molecular background have been conducted in Western populations; however, knowledge of the IRD mutational spectrum in Poland is still limited. Until now, there has been almost no comprehensive analysis of this particular population regarding the molecular basis and inheritance of IRDs. Therefore, the purpose of this study was to gain knowledge about the type and prevalence of causative variants in the Polish population. Methods We recruited 190 Polish families with non-syndromic IRDs, including Stargardt disease (STGD), retinitis pigmentosa (RP), cone- and cone-rod dystrophy (CD/CRD), achromatopsia, and congenital stationary night blindness. A pool of molecular inversion probes was used, which targeted 108 genes associated with non-syndromic IRDs known in 2013. We applied filtering for known variants occurring with an allele frequency >0.5% in public and in-house databases, with the exception of variants in ABCA4, when the frequency filter was set to 3.0%. Hypomorphic p.(Asn1868Ile) was added manually. In the case of novel missense or splicing variants, we used in silico prediction software to assess mutation causality. Results We detected causative mutations in 115 of the 190 families with non-syndromic IRD (60.2%). Fifty-nine individuals with STGD, RP, and CD/CRD carried causal variants in ABCA4. Novel single nucleotide variants were found in ABCA4, CEP290, EYS, MAK, and CNGA3. The complex allele c.[1622T>C;3113C>T], p.[Leu541Pro;Ala1038Val] was found in 33 individuals with ABCA4-associated disorders, which makes it the most prevalent allele in the Polish population (17% of all solved cases). Diagnosis was reevaluated in 16 cases. Conclusions Previously, there were no comprehensive reports of IRDs in the Polish population. This study is the first to indicate that the most common IRDs in Poland are ABCA4-associated diseases, regardless of the phenotype. In Polish patients with RP, the second most prevalent causal gene was RHO and the third RPGR, while there were not as many mutations in EYS as in Western populations. The number of initial erroneous diagnoses may be the result of limited access to diagnostics with advanced tools, such as electroretinography; however, it is necessary to raise awareness among Polish ophthalmologists of rare IRDs. Additionally, it must be emphasized that in some cases genetic analysis of the patient is necessary to achieve an accurate diagnosis." @default.
• W3183649910 created "2021-08-02" @default.
• W3183649910 creator A5014038681 @default.
• W3183649910 creator A5018972759 @default.
• W3183649910 creator A5019037701 @default.
• W3183649910 creator A5019246020 @default.
• W3183649910 creator A5030560740 @default.
• W3183649910 creator A5040479770 @default.
• W3183649910 creator A5047611443 @default.
• W3183649910 creator A5048783189 @default.
• W3183649910 creator A5049092479 @default.
• W3183649910 creator A5057387947 @default.
• W3183649910 creator A5064248027 @default.
• W3183649910 creator A5078101996 @default.
• W3183649910 creator A5042176172 @default.
• W3183649910 date "2021-07-16" @default.
• W3183649910 modified "2023-10-05" @default.
• W3183649910 title "Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes" @default.
• W3183649910 cites W1976370114 @default.
• W3183649910 cites W2049417498 @default.
• W3183649910 cites W2133185756 @default.
• W3183649910 cites W2165180719 @default.
• W3183649910 cites W2180115160 @default.
• W3183649910 cites W2410806930 @default.
• W3183649910 cites W2413651693 @default.
• W3183649910 cites W2746606846 @default.
• W3183649910 cites W2766403708 @default.
• W3183649910 cites W2771431364 @default.
• W3183649910 cites W2800223861 @default.
• W3183649910 cites W2893795592 @default.
• W3183649910 cites W2910182884 @default.
• W3183649910 cites W2991393330 @default.
• W3183649910 cites W3002340286 @default.
• W3183649910 cites W3004909908 @default.
• W3183649910 cites W3016532672 @default.
• W3183649910 cites W3047338141 @default.
• W3183649910 cites W3054597842 @default.
• W3183649910 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8286799" @default.
• W3183649910 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34321860" @default.
• W3183649910 hasPublicationYear "2021" @default.
• W3183649910 type Work @default.
• W3183649910 sameAs 3183649910 @default.
• W3183649910 citedByCount "5" @default.
• W3183649910 countsByYear W31836499102022 @default.
• W3183649910 countsByYear W31836499102023 @default.
• W3183649910 crossrefType "journal-article" @default.
• W3183649910 hasAuthorship W3183649910A5014038681 @default.
• W3183649910 hasAuthorship W3183649910A5018972759 @default.
• W3183649910 hasAuthorship W3183649910A5019037701 @default.
• W3183649910 hasAuthorship W3183649910A5019246020 @default.
• W3183649910 hasAuthorship W3183649910A5030560740 @default.
• W3183649910 hasAuthorship W3183649910A5040479770 @default.
• W3183649910 hasAuthorship W3183649910A5042176172 @default.
• W3183649910 hasAuthorship W3183649910A5047611443 @default.
• W3183649910 hasAuthorship W3183649910A5048783189 @default.
• W3183649910 hasAuthorship W3183649910A5049092479 @default.
• W3183649910 hasAuthorship W3183649910A5057387947 @default.
• W3183649910 hasAuthorship W3183649910A5064248027 @default.
• W3183649910 hasAuthorship W3183649910A5078101996 @default.
• W3183649910 hasConcept C104317684 @default.
• W3183649910 hasConcept C127716648 @default.
• W3183649910 hasConcept C13121076 @default.
• W3183649910 hasConcept C16671776 @default.
• W3183649910 hasConcept C170493617 @default.
• W3183649910 hasConcept C173803235 @default.
• W3183649910 hasConcept C2777906962 @default.
• W3183649910 hasConcept C2779460726 @default.
• W3183649910 hasConcept C2780604041 @default.
• W3183649910 hasConcept C2780827179 @default.
• W3183649910 hasConcept C2781114197 @default.
• W3183649910 hasConcept C2908647359 @default.
• W3183649910 hasConcept C31519591 @default.
• W3183649910 hasConcept C54355233 @default.
• W3183649910 hasConcept C55493867 @default.
• W3183649910 hasConcept C71924100 @default.
• W3183649910 hasConcept C75563809 @default.
• W3183649910 hasConcept C86803240 @default.
• W3183649910 hasConcept C99454951 @default.
• W3183649910 hasConceptScore W3183649910C104317684 @default.
• W3183649910 hasConceptScore W3183649910C127716648 @default.
• W3183649910 hasConceptScore W3183649910C13121076 @default.
• W3183649910 hasConceptScore W3183649910C16671776 @default.
• W3183649910 hasConceptScore W3183649910C170493617 @default.
• W3183649910 hasConceptScore W3183649910C173803235 @default.
• W3183649910 hasConceptScore W3183649910C2777906962 @default.
• W3183649910 hasConceptScore W3183649910C2779460726 @default.
• W3183649910 hasConceptScore W3183649910C2780604041 @default.
• W3183649910 hasConceptScore W3183649910C2780827179 @default.
• W3183649910 hasConceptScore W3183649910C2781114197 @default.
• W3183649910 hasConceptScore W3183649910C2908647359 @default.
• W3183649910 hasConceptScore W3183649910C31519591 @default.
• W3183649910 hasConceptScore W3183649910C54355233 @default.
• W3183649910 hasConceptScore W3183649910C55493867 @default.
• W3183649910 hasConceptScore W3183649910C71924100 @default.
• W3183649910 hasConceptScore W3183649910C75563809 @default.
• W3183649910 hasConceptScore W3183649910C86803240 @default.
• W3183649910 hasConceptScore W3183649910C99454951 @default.
• W3183649910 hasLocation W31836499101 @default.

• next