{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ma M"],"funding":["National Institute of Neurological Disorders and Stroke","National Institutes of Health Office of Research Infrastructure Programs","NICHD NIH HHS","International Rett Syndrome Foundation","Doris Duke Charitable Foundation","NIH Office of the Director","NHGRI NIH HHS","NINDS NIH HHS","National Human Genome Research Institute","NIH HHS","National Institute of Child Health and Human Development"],"pagination":["101125"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11335040"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(7)"],"pubmed_abstract":["<h4>Purpose</h4>YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases.<h4>Methods</h4>We report 3 unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue constructs of the fly ortholog dYkt6 and compared their ability in rescuing the loss-of-function phenotypes in mutant flies. We also generated a dYkt6<sup>KozakGAL4</sup> allele to assess the expression pattern of dYkt6.<h4>Results</h4>Two individuals are homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] and exhibited normal prenatal course followed by failure to thr"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma."],"pmcid":["PMC11335040"],"funding_grant_id":["UM1 HG006542","R24 OD031447","K23 NS125126","R35 NS105078","U54 HD083092","R24 OD022005","P50 HD105351","P30 HD024064"],"pubmed_authors":["Tan KL","Ma M","Rosenfeld JA","Temel SG","Ganapathi M","Quintanilla N","Sag SO","Chung WK","LeDuc CA","Pereira EM","Hertel PM","McPartland AJ","Lupski JR","Shen Y","Hagen J","Pan X","Zheng Y","Thomas CP","Calame DG","Bove KE","Kanca O","Pehlivan D","Wangler MF","Lu S","Nguyen Galvan NT","Bellen HJ"],"additional_accession":[]},"is_claimable":false,"name":"Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.","description":"<h4>Purpose</h4>YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases.<h4>Methods</h4>We report 3 unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue constructs of the fly ortholog dYkt6 and compared their ability in rescuing the loss-of-function phenotypes in mutant flies. We also generated a dYkt6<sup>KozakGAL4</sup> allele to assess the expression pattern of dYkt6.<h4>Results</h4>Two individuals are homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] and exhibited normal prenatal course followed by failure to thr","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-02T13:13:09.238Z","creation":"2026-04-18T03:11:05.812Z"},"accession":"S-EPMC11335040","cross_references":{"pubmed":["38522068"],"doi":["10.1016/j.gim.2024.101125"]}}