{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Daich Varela M"],"funding":["Wellcome Trust"],"pagination":["38"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10910431"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["65(2)"],"pubmed_abstract":["<h4>Purpose</h4>To investigate the molecular effect of the variant PHYH:c.678+5G>T. This variant has conflicting interpretations in the ClinVar database and a maximum allele frequency of 0.0045 in the South Asian population in gnomAD.<h4>Methods</h4>We recruited patients from Moorfields Eye Hospital (London, UK) and Buenos Aires, Argentina, who were diagnosed with retinitis pigmentosa and found to have biallelic variants in PHYH, with at least one being c.678+5G>T. Total RNA was purified from PaxGene RNA-stabilized whole-blood samples, followed by reverse transcription to cDNA, PCR amplification of the canonical PHYH transcript, Oxford Nanopore Technologies library preparation, and single-molecule amplicon sequencing.<h4>Results</h4>Four patients provided a blood sample. One patient had is"],"journal":["Investigative ophthalmology & visual science"],"pubmed_title":["PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease."],"pmcid":["PMC10910431"],"funding_grant_id":["206619/Z/17/Z","099173/Z/12/Z"],"pubmed_authors":["Daich Varela M","Mahroo OA","Webster AR","Malka S","Wright G","Arno G","Michaelides M","Schiff E"],"additional_accession":[]},"is_claimable":false,"name":"PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.","description":"<h4>Purpose</h4>To investigate the molecular effect of the variant PHYH:c.678+5G>T. This variant has conflicting interpretations in the ClinVar database and a maximum allele frequency of 0.0045 in the South Asian population in gnomAD.<h4>Methods</h4>We recruited patients from Moorfields Eye Hospital (London, UK) and Buenos Aires, Argentina, who were diagnosed with retinitis pigmentosa and found to have biallelic variants in PHYH, with at least one being c.678+5G>T. Total RNA was purified from PaxGene RNA-stabilized whole-blood samples, followed by reverse transcription to cDNA, PCR amplification of the canonical PHYH transcript, Oxford Nanopore Technologies library preparation, and single-molecule amplicon sequencing.<h4>Results</h4>Four patients provided a blood sample. One patient had is","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Feb","modification":"2026-07-15T08:26:36.14Z","creation":"2025-04-06T17:16:50.378Z"},"accession":"S-EPMC10910431","cross_references":{"pubmed":["38411969"],"doi":["10.1167/iovs.65.2.38"]}}