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Exome sequencing uncovered a heterozygous mutation in <jats:italic>SLC25A24<\/jats:italic> (NM_013386: c.650G&gt;A: p.R217H) that encodes for the calcium\u2010binding mitochondrial carrier protein SCaMC\u20101. This gain\u2010of\u2010function variant has been previously associated with Fontaine syndrome and Gorlin\u2010Chaudhry\u2010Moss syndrome, two entities that show overlapping features, and have been recently subsumed under the name Fontaine progeroid syndrome (FPS; MIM: 612289) in OMIM. Here, we describe the first male patient with genetically confirmed FPS who survives at least until adolescence.<\/jats:p>","DOI":"10.1002\/ajmg.a.40496","type":"journal-article","created":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T14:43:03Z","timestamp":1539787383000},"page":"2479-2486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in <i>SLC25A24<\/i>"],"prefix":"10.1002","volume":"176","author":[{"given":"Mar\u00eda Elena","family":"Rodr\u00edguez\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Javier","family":"Cotrina\u2010Vinagre","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime","family":"Cruz\u2010Rojo","sequence":"additional","affiliation":[{"name":"Unidad de Dismorfolog\u00eda, Departamento de Pediatr\u00eda Hospital 12 de Octubre  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda","family":"Garz\u00f3n\u2010Lorenzo","sequence":"additional","affiliation":[{"name":"Unidad de Dismorfolog\u00eda, Departamento de Pediatr\u00eda Hospital 12 de Octubre  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Carnicero\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime S\u00e1nchez\u2010Del","family":"Pozo","sequence":"additional","affiliation":[{"name":"Unidad de Dismorfolog\u00eda, Departamento de Pediatr\u00eda Hospital 12 de Octubre  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6250-7745","authenticated-orcid":false,"given":"Francisco","family":"Mart\u00ednez\u2010Azor\u00edn","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales Instituto de Investigaci\u00f3n Hospital 12 de Octubre (i+12)  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Madrid 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