FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3039451854> ?p ?o ?g. }

• W3039451854 endingPage "204" @default.
• W3039451854 startingPage "195" @default.
• W3039451854 abstract "PurposeTo define genotype–phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 patients with Stargardt disease (STGD1) and 72 with cone-rod dystrophy (CRD).DesignCohort study.MethodsWe characterized 506 patients with ABCA4 variants using conventional genetic tools and next-generation sequencing technologies. Medical history and ophthalmologic data were obtained from 372 patients. Genotype–phenotype correlation studies were carried out for the following variables: variant type, age at symptom onset (AO), and clinical phenotype.ResultsA total of 228 different pathogenic variants were identified in 506 ABCA4 patients, 50 of which were novel. Genotype–phenotype correlations showed that most of the patients with biallelic truncating variants presented with CRD and that these cases had a significantly earlier AO than patients with STGD1. Three missense variants are associated with CRD for the first time (c.1804C>T; p.[Arg602Trp], c.3056C>T; p.[Thr1019Met], and c.6320G>C; p.[Arg2107Pro]). Analysis of the most prevalent ABCA4 variant in Spain, c.3386G>T; p.(Arg1129Leu), revealed that is correlated to STGD1, later AO, and foveal sparing.ConclusionsOur study, conducted in the largest ABCA4-associated disease cohort reported to date, updates the genotype–phenotype model established for ABCA4 variants and broadens the mutational spectrum of the gene. According to our observations, patients with ABCA4 presenting with 2 truncating variants may first present features of STGD1 but eventually develop rod dysfunction, and specific missense variants may be associated with a different phenotype, underscoring the importance of an accurate genetic diagnosis. Also, it is a prerequisite for enrollment in clinical trials, and to date, no other treatment has been approved for STGD1. To define genotype–phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 patients with Stargardt disease (STGD1) and 72 with cone-rod dystrophy (CRD). Cohort study. We characterized 506 patients with ABCA4 variants using conventional genetic tools and next-generation sequencing technologies. Medical history and ophthalmologic data were obtained from 372 patients. Genotype–phenotype correlation studies were carried out for the following variables: variant type, age at symptom onset (AO), and clinical phenotype. A total of 228 different pathogenic variants were identified in 506 ABCA4 patients, 50 of which were novel. Genotype–phenotype correlations showed that most of the patients with biallelic truncating variants presented with CRD and that these cases had a significantly earlier AO than patients with STGD1. Three missense variants are associated with CRD for the first time (c.1804C>T; p.[Arg602Trp], c.3056C>T; p.[Thr1019Met], and c.6320G>C; p.[Arg2107Pro]). Analysis of the most prevalent ABCA4 variant in Spain, c.3386G>T; p.(Arg1129Leu), revealed that is correlated to STGD1, later AO, and foveal sparing. Our study, conducted in the largest ABCA4-associated disease cohort reported to date, updates the genotype–phenotype model established for ABCA4 variants and broadens the mutational spectrum of the gene. According to our observations, patients with ABCA4 presenting with 2 truncating variants may first present features of STGD1 but eventually develop rod dysfunction, and specific missense variants may be associated with a different phenotype, underscoring the importance of an accurate genetic diagnosis. Also, it is a prerequisite for enrollment in clinical trials, and to date, no other treatment has been approved for STGD1." @default.
• W3039451854 created "2020-07-10" @default.
• W3039451854 creator A5002318312 @default.
• W3039451854 creator A5002414674 @default.
• W3039451854 creator A5003411530 @default.
• W3039451854 creator A5003874624 @default.
• W3039451854 creator A5005618359 @default.
• W3039451854 creator A5008987509 @default.
• W3039451854 creator A5011238442 @default.
• W3039451854 creator A5015762061 @default.
• W3039451854 creator A5022424385 @default.
• W3039451854 creator A5031198103 @default.
• W3039451854 creator A5038528000 @default.
• W3039451854 creator A5045857759 @default.
• W3039451854 creator A5066333528 @default.
• W3039451854 creator A5071253857 @default.
• W3039451854 creator A5075780343 @default.
• W3039451854 creator A5077981648 @default.
• W3039451854 creator A5086429435 @default.
• W3039451854 creator A5091262446 @default.
• W3039451854 date "2020-11-01" @default.
• W3039451854 modified "2023-10-17" @default.
• W3039451854 title "Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants" @default.
• W3039451854 cites W1526637642 @default.
• W3039451854 cites W1939955154 @default.
• W3039451854 cites W1964753793 @default.
• W3039451854 cites W1969929916 @default.
• W3039451854 cites W1976527065 @default.
• W3039451854 cites W1991544676 @default.
• W3039451854 cites W2010542360 @default.
• W3039451854 cites W2012444311 @default.
• W3039451854 cites W2013739504 @default.
• W3039451854 cites W2017563099 @default.
• W3039451854 cites W2022817398 @default.
• W3039451854 cites W2051978340 @default.
• W3039451854 cites W2059145105 @default.
• W3039451854 cites W2070314210 @default.
• W3039451854 cites W2076129073 @default.
• W3039451854 cites W2097343059 @default.
• W3039451854 cites W2116792431 @default.
• W3039451854 cites W2125422830 @default.
• W3039451854 cites W2125820504 @default.
• W3039451854 cites W2130848396 @default.
• W3039451854 cites W2137886330 @default.
• W3039451854 cites W2148754072 @default.
• W3039451854 cites W2160995259 @default.
• W3039451854 cites W2164901801 @default.
• W3039451854 cites W2166621376 @default.
• W3039451854 cites W2170750428 @default.
• W3039451854 cites W2505357900 @default.
• W3039451854 cites W2535426958 @default.
• W3039451854 cites W2561976741 @default.
• W3039451854 cites W2580288737 @default.
• W3039451854 cites W2608148424 @default.
• W3039451854 cites W2768924913 @default.
• W3039451854 cites W2800515343 @default.
• W3039451854 cites W2808848006 @default.
• W3039451854 cites W2810084591 @default.
• W3039451854 cites W2889287658 @default.
• W3039451854 cites W2910182884 @default.
• W3039451854 cites W2914421200 @default.
• W3039451854 cites W2944990377 @default.
• W3039451854 cites W2949649335 @default.
• W3039451854 cites W3016532672 @default.
• W3039451854 doi "https://doi.org/10.1016/j.ajo.2020.06.027" @default.
• W3039451854 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32619608" @default.
• W3039451854 hasPublicationYear "2020" @default.
• W3039451854 type Work @default.
• W3039451854 sameAs 3039451854 @default.
• W3039451854 citedByCount "17" @default.
• W3039451854 countsByYear W30394518542020 @default.
• W3039451854 countsByYear W30394518542021 @default.
• W3039451854 countsByYear W30394518542022 @default.
• W3039451854 countsByYear W30394518542023 @default.
• W3039451854 crossrefType "journal-article" @default.
• W3039451854 hasAuthorship W3039451854A5002318312 @default.
• W3039451854 hasAuthorship W3039451854A5002414674 @default.
• W3039451854 hasAuthorship W3039451854A5003411530 @default.
• W3039451854 hasAuthorship W3039451854A5003874624 @default.
• W3039451854 hasAuthorship W3039451854A5005618359 @default.
• W3039451854 hasAuthorship W3039451854A5008987509 @default.
• W3039451854 hasAuthorship W3039451854A5011238442 @default.
• W3039451854 hasAuthorship W3039451854A5015762061 @default.
• W3039451854 hasAuthorship W3039451854A5022424385 @default.
• W3039451854 hasAuthorship W3039451854A5031198103 @default.
• W3039451854 hasAuthorship W3039451854A5038528000 @default.
• W3039451854 hasAuthorship W3039451854A5045857759 @default.
• W3039451854 hasAuthorship W3039451854A5066333528 @default.
• W3039451854 hasAuthorship W3039451854A5071253857 @default.
• W3039451854 hasAuthorship W3039451854A5075780343 @default.
• W3039451854 hasAuthorship W3039451854A5077981648 @default.
• W3039451854 hasAuthorship W3039451854A5086429435 @default.
• W3039451854 hasAuthorship W3039451854A5091262446 @default.
• W3039451854 hasBestOaLocation W30394518541 @default.
• W3039451854 hasConcept C104317684 @default.
• W3039451854 hasConcept C126322002 @default.
• W3039451854 hasConcept C127716648 @default.
• W3039451854 hasConcept C135763542 @default.

• next