{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ettaki I"],"funding":["National Institute of Arthritis and Musculoskeletal and Skin Diseases","NIAMS NIH HHS"],"pagination":["100404"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11834033"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(2)"],"pubmed_abstract":["SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined. It is highly expressed in tooth progenitor cells, but its odontogenic roles remain elusive, and tooth defects are unreported in SOX9-related conditions. Here, we performed whole-exome sequencing for nine unrelated children with tooth eruption delay and no known syndromes and identified a 7-year-old girl heterozygous for a SOX9 p.Thr239Pro variant and a 10-year-old boy heterozygous for presumably adjacent p.Thr239Pro and p.Thr240"],"journal":["HGG advances"],"pubmed_title":["Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features."],"pmcid":["PMC11834033"],"funding_grant_id":["R01 AR080062"],"pubmed_authors":["Wakrim L","Karvande A","Haseeb A","Saih A","Barakat A","Hamdi S","El Alloussi M","Amalou G","AitRaise I","Ettaki I","Fellah H","Lefebvre V"],"additional_accession":[]},"is_claimable":false,"name":"Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.","description":"SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined. It is highly expressed in tooth progenitor cells, but its odontogenic roles remain elusive, and tooth defects are unreported in SOX9-related conditions. Here, we performed whole-exome sequencing for nine unrelated children with tooth eruption delay and no known syndromes and identified a 7-year-old girl heterozygous for a SOX9 p.Thr239Pro variant and a 10-year-old boy heterozygous for presumably adjacent p.Thr239Pro and p.Thr240","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-05-25T08:01:01.224Z","creation":"2025-04-04T02:12:40.023Z"},"accession":"S-EPMC11834033","cross_references":{"pubmed":["39797402"],"doi":["10.1016/j.xhgg.2025.100404"]}}