{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gofin Y"],"funding":["NICHD NIH HHS","Simons Foundation Autism Research Initiative","NIMH NIH HHS","Silicon Valley Community Foundation","NHGRI NIH HHS","National Institutes of Health"],"pagination":["461-470"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8960338"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(4)"],"pubmed_abstract":["PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss-of-function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder (ASD). We describe 16 individuals from 12 families who carry deletions involving PAX5 and surrounding genes, de novo frameshift variants that are likely to trigger nonsense-mediated mRNA decay, a rare stop-gain variant, or missense variants that affect conserved amino acid residues. Four of these individuals were published previously but without detailed clinical descriptions. All these individuals have been diagnosed with one or more neurodevelopmental phenotypes including delayed developmental milestones (DD), intellectual disability (ID),"],"journal":["Human mutation"],"pubmed_title":["Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency."],"pmcid":["PMC8960338"],"funding_grant_id":["608045","K23 HD102589","R01 HG009141","U01 HG011755","R01 MH101221","UM1 HG008900"],"pubmed_authors":["VanNoy GE","Rosenfeld JA","Genetti C","Azamian MS","Howe JL","Wojcik MH","Delgado MR","Lynch SA","O'Donnell-Luria A","Gofin Y","Agrawal PB","Earl RK","Scherer SW","Lalani SR","Scott DA","Gillentine MA","Bacino CA","Graf WD","Scott TM","Wang T","Picker J","Eichler EE","DiTroia S","Berry AM"],"additional_accession":[]},"is_claimable":false,"name":"Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.","description":"PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss-of-function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder (ASD). We describe 16 individuals from 12 families who carry deletions involving PAX5 and surrounding genes, de novo frameshift variants that are likely to trigger nonsense-mediated mRNA decay, a rare stop-gain variant, or missense variants that affect conserved amino acid residues. Four of these individuals were published previously but without detailed clinical descriptions. All these individuals have been diagnosed with one or more neurodevelopmental phenotypes including delayed developmental milestones (DD), intellectual disability (ID),","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-09T13:46:24.855Z","creation":"2025-02-18T23:45:07.209Z"},"accession":"S-EPMC8960338","cross_references":{"pubmed":["35094443"],"doi":["10.1002/humu.24332"]}}