Matches in SemOpenAlex for { <https://semopenalex.org/work/W4235506042> ?p ?o ?g. }
Showing items 1 to 55 of
55
with 100 items per page.
- W4235506042 abstract "Abstract BackgroundAutosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB.MethodsOphthalmic examinations were performed on the affected patients with ARB. The proband was screened for potential causative mutations in a panel with 256 known retinal disease genes by using target capture sequencing. The related mutation was further validated and segregated in the family members by Sanger sequencing. In silico prediction tools were used for pathogenicity assessment. A UHPLC-MS/MS metabolomic analysis was performed to explore the disease-associated metabolic feature.ResultsThe affected patients from this family were characterized by low vision, the presence of subretinal fluid, macular edema, and hyperopia with coincidental angle closure. DNA sequencing identified a novel missense mutation in the BEST1 gene c.646G>A (p.Val216Ile) of the proband. Sanger sequencing further confirmed the mutation. The missense mutation was co-segregation across the pedigree and predicted to be deleterious by SIFT (0.017). The blood metabolic profiles were highly similar among all family members probably because of the same lifestyle, habitat and genomic background. However, ARB patients presented a significant deregulation of metabolites, such as citric acid, L-Threonic acid, and eicosapentaenoic acid.ConclusionsWe identified a novel disease-associated variant in the BEST1 gene as well as a disease-specific metabolic feature in familial ARB. Our findings helped improve the understanding of ARB mechanisms." @default.
- W4235506042 created "2022-05-12" @default.
- W4235506042 creator A5012605768 @default.
- W4235506042 creator A5042751715 @default.
- W4235506042 creator A5047314500 @default.
- W4235506042 creator A5052395114 @default.
- W4235506042 creator A5086258053 @default.
- W4235506042 date "2019-12-09" @default.
- W4235506042 modified "2023-10-16" @default.
- W4235506042 title "Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile" @default.
- W4235506042 doi "https://doi.org/10.21203/rs.2.14948/v3" @default.
- W4235506042 hasPublicationYear "2019" @default.
- W4235506042 type Work @default.
- W4235506042 citedByCount "0" @default.
- W4235506042 crossrefType "posted-content" @default.
- W4235506042 hasAuthorship W4235506042A5012605768 @default.
- W4235506042 hasAuthorship W4235506042A5042751715 @default.
- W4235506042 hasAuthorship W4235506042A5047314500 @default.
- W4235506042 hasAuthorship W4235506042A5052395114 @default.
- W4235506042 hasAuthorship W4235506042A5086258053 @default.
- W4235506042 hasBestOaLocation W42355060421 @default.
- W4235506042 hasConcept C104317684 @default.
- W4235506042 hasConcept C12125453 @default.
- W4235506042 hasConcept C188997412 @default.
- W4235506042 hasConcept C501734568 @default.
- W4235506042 hasConcept C54355233 @default.
- W4235506042 hasConcept C75563809 @default.
- W4235506042 hasConcept C76818968 @default.
- W4235506042 hasConcept C86803240 @default.
- W4235506042 hasConceptScore W4235506042C104317684 @default.
- W4235506042 hasConceptScore W4235506042C12125453 @default.
- W4235506042 hasConceptScore W4235506042C188997412 @default.
- W4235506042 hasConceptScore W4235506042C501734568 @default.
- W4235506042 hasConceptScore W4235506042C54355233 @default.
- W4235506042 hasConceptScore W4235506042C75563809 @default.
- W4235506042 hasConceptScore W4235506042C76818968 @default.
- W4235506042 hasConceptScore W4235506042C86803240 @default.
- W4235506042 hasLocation W42355060421 @default.
- W4235506042 hasLocation W42355060422 @default.
- W4235506042 hasLocation W42355060423 @default.
- W4235506042 hasOpenAccess W4235506042 @default.
- W4235506042 hasPrimaryLocation W42355060421 @default.
- W4235506042 hasRelatedWork W2349400098 @default.
- W4235506042 hasRelatedWork W2883126636 @default.
- W4235506042 hasRelatedWork W2920096867 @default.
- W4235506042 hasRelatedWork W3024168541 @default.
- W4235506042 hasRelatedWork W3024306633 @default.
- W4235506042 hasRelatedWork W3151508911 @default.
- W4235506042 hasRelatedWork W3155541108 @default.
- W4235506042 hasRelatedWork W3189132110 @default.
- W4235506042 hasRelatedWork W3201076994 @default.
- W4235506042 hasRelatedWork W4287398924 @default.
- W4235506042 isParatext "false" @default.
- W4235506042 isRetracted "false" @default.
- W4235506042 workType "article" @default.