biostudies-literatureUnknown15Fu X<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 reporFrontiers in endocrinology1345067https://www.ebi.ac.uk/biostudies/studies/S-EPMC10965776biostudies-literatureCase report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.PMC10965776Fu XCui YHuang XLin WYang QChen SLu QfalseCase report: A novel splice-site mutation of <i>MTX2</i> gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.<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 repor2024-01-01T00:00:00Z20242025-04-21T21:32:17.664Z2025-04-05T18:23:39.821ZS-EPMC109657763854469010.3389/fendo.2024.1345067