{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15"],"submitter":["Fu X"],"pubmed_abstract":["<h4>Background</h4>Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide. In the Chinese population, cases of MAD associated with the <i>MTX2</i> variant have never been reported.<h4>Methods</h4>The clinical symptoms and the genetic analysis were identified and investigated in patients presented with the disease. In addition, we analyzed and compared 7 MADaM cases repor"],"journal":["Frontiers in endocrinology"],"pagination":["1345067"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10965776"],"repository":["biostudies-literature"],"pubmed_title":["Case report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review."],"pmcid":["PMC10965776"],"pubmed_authors":["Fu X","Cui Y","Huang X","Lin W","Yang Q","Chen S","Lu Q"],"additional_accession":[]},"is_claimable":false,"name":"Case report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.","description":"<h4>Background</h4>Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide. In the Chinese population, cases of MAD associated with the <i>MTX2</i> variant have never been reported.<h4>Methods</h4>The clinical symptoms and the genetic analysis were identified and investigated in patients presented with the disease. In addition, we analyzed and compared 7 MADaM cases repor","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2025-04-21T21:32:17.664Z","creation":"2025-04-05T18:23:39.821Z"},"accession":"S-EPMC10965776","cross_references":{"pubmed":["38544690"],"doi":["10.3389/fendo.2024.1345067"]}}