{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Zhang K"],"pubmed_abstract":["Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the <i>PI4KA</i> gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. <i>PI4KA</i> mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate. Two novel compound heterozygous mutations, c.5846T>C (p.Leu1949Pro) and c.3453C>T (p.Gly1151=), were identified in the neonate from the father and the mother, respectively. Sanger sequencing and reverse transcription polymerase chain reaction (RT-PCR) for peripheral blood and minigene splicing assays showed a deletion of fiv"],"journal":["Frontiers in immunology"],"pagination":["987666"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9627211"],"repository":["biostudies-literature"],"pubmed_title":["A synonymous mutation in <i>PI4KA</i> impacts the transcription and translation process of gene expression."],"pmcid":["PMC9627211"],"pubmed_authors":["Zhang K","Zhang H","Lv Y","Wang D","Liu Q","Yu H","Chen D","Liu Y","Li X","Gao M","Zhang X","Bai L","Pang H","Kang L","Gai Z"],"additional_accession":[]},"is_claimable":false,"name":"A synonymous mutation in <i>PI4KA</i> impacts the transcription and translation process of gene expression.","description":"Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the <i>PI4KA</i> gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. <i>PI4KA</i> mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate. Two novel compound heterozygous mutations, c.5846T>C (p.Leu1949Pro) and c.3453C>T (p.Gly1151=), were identified in the neonate from the father and the mother, respectively. Sanger sequencing and reverse transcription polymerase chain reaction (RT-PCR) for peripheral blood and minigene splicing assays showed a deletion of fiv","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-05-29T18:49:56.225Z","creation":"2024-12-03T20:19:25.944Z"},"accession":"S-EPMC9627211","cross_references":{"pubmed":["36341355"],"doi":["10.3389/fimmu.2022.987666"]}}