{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Grange DK"],"funding":["NCRR NIH HHS","NHGRI NIH HHS","NINDS NIH HHS"],"pagination":["e63854"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12358058"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["197(1)"],"pubmed_abstract":["We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1, identified by exome sequencing. MAP2K1 encodes MEK1, dual specificity mitogen-activated protein kinase kinase 1, and is one of four genes in the canonical RAS/MAPK signal transduction pathway associated with CFC syndrome. The p.H119Y variant is a non-conservative amino acid substitution that is predicted to impact the tertiary protein structure, and it occurs at a position in the protein kinase domain of MAP2K1 that is highly conserved across species. The clinical findings in these three individuals include facial features that are nonclassical for CFC syndrome, extremely poor"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy."],"pmcid":["PMC12358058"],"funding_grant_id":["U01 NS134354","U01 HG010215","P41 RR001081"],"pubmed_authors":["Ramsey KM","Rauen KA","Cole FS","Sheehan JH","Undiagnosed Diseases Network","Wegner DJ","Narayanan V","Stone SI","Grange DK","Sisco KA","Wambach JA"],"additional_accession":[]},"is_claimable":false,"name":"Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.","description":"We report three unrelated individuals with atypical clinical findings for cardio-facio-cutaneous (CFC) syndrome, all of whom have the same novel, heterozygous de novo p.H119Y (c.355 C>T) transition variant in MAP2K1, identified by exome sequencing. MAP2K1 encodes MEK1, dual specificity mitogen-activated protein kinase kinase 1, and is one of four genes in the canonical RAS/MAPK signal transduction pathway associated with CFC syndrome. The p.H119Y variant is a non-conservative amino acid substitution that is predicted to impact the tertiary protein structure, and it occurs at a position in the protein kinase domain of MAP2K1 that is highly conserved across species. The clinical findings in these three individuals include facial features that are nonclassical for CFC syndrome, extremely poor","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-05-29T15:01:59.124Z","creation":"2026-04-08T05:06:57.755Z"},"accession":"S-EPMC12358058","cross_references":{"pubmed":["39166407"],"doi":["10.1002/ajmg.a.63854"]}}