{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T09:54:24Z","timestamp":1766138064124,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:00:00Z","timestamp":1662681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004618","name":"Universit\u00e9 de Bourgogne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004618","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in patients with 46,XY karyotype and visceroautonomic dysfunction responsible for sudden infant death. First described in 2004, very few patients have since been reported. We describe here a new patient with SIDDT and epileptic encephalopathy (EE). We provide the phenotypic description and genetic results of a boy carrying biallelic <jats:italic>TSPYL1<\/jats:italic> deleterious variants. We also reviewed the data of the 26 previously described patients with SIDDT. Our patient presented gonadal dysgenesis, cardio\u2010respiratory dysfunction, and repeated seizures, leading in 1\u2009month to severe intractable EE. He died at age 10\u2009months of cardiorespiratory arrest. Four other reported patients from two families presented with progressive epilepsy, including one with severe EE. No similar phenotype was described in the 22 other patients and the recurrent variant p.Val242Glufs*52 appears to be more frequently associated with seizures. To note, our patient is the first case with compound heterozygous <jats:italic>TSPYL1<\/jats:italic> variants. These findings expand the phenotypic spectrum of SIDDT by reporting progressive epilepsy and severe EE as a possible outcome. This information may help in managing patients with SIDDT.<\/jats:p>","DOI":"10.1002\/ajmg.a.62966","type":"journal-article","created":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T19:58:09Z","timestamp":1662753489000},"page":"3540-3545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by <scp><i>TSPYL1<\/i><\/scp> variants"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1788-1495","authenticated-orcid":false,"given":"Benoit","family":"Mazel","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHUTRANSLAD \u2013 CHU Dijon Bourgogne  Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHUTRANSLAD) CHU Dijon Bourgogne et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire, UF Innovation en Diagnostic G\u00e9nomique des Maladies Rares Centre Hospitalier Universitaire de Dijon  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Mallet","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Groupement Hospitalier Est, Laboratoire de Biochimie et Biologie Mol\u00e9culaire Grand Est UM Pathologies Endocriniennes et Mucoviscidose  Bron France"},{"name":"Centre de R\u00e9f\u00e9rence du D\u00e9veloppement G\u00e9nital: du F\u0153tus \u00e0 l'Adulte, Fili\u00e8re Maladies Rares Endocriniennes  Bron 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G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fares","family":"El Khabbaz","sequence":"additional","affiliation":[{"name":"Service de Soins Intensifs N\u00e9onataux Centre Hospitalier d'Auxerre  Auxerre France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire, UF Innovation en Diagnostic G\u00e9nomique des Maladies Rares Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"Inserm UMR1231 GAD, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Chromosomique et 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