{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:32:19Z","timestamp":1790620339899,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T00:00:00Z","timestamp":1375056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"South Carolina Department of Disabilities and Special Needs","award":["2013-45"],"award-info":[{"award-number":["2013-45"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Snyder\u2013Robinson syndrome is a rare form of X\u2010linked intellectual disability caused by mutations in the spermine synthase (<jats:italic>SMS<\/jats:italic>) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. Physical signs seem to evolve from childhood to adulthood. We describe the first Italian patient with Snyder\u2013Robinson syndrome and a novel nonsense mutation in <jats:italic>SMS<\/jats:italic> (c.200G&gt;A; p.G67X). Apart from the typical features of the syndrome, the index patient presented with an ectopic right kidney and epilepsy from the first year of age that was characterized by focal motor seizures and negative myoclonus. The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of Snyder\u2013Robinson syndrome to include myoclonic or myoclonic\u2010like seizures (starting even in the first years of life) and renal abnormalities in affected males. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36116","type":"journal-article","created":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T19:50:38Z","timestamp":1375127438000},"page":"2316-2320","source":"Crossref","is-referenced-by-count":35,"title":["Snyder\u2013Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype"],"prefix":"10.1002","volume":"161","author":[{"given":"Angela","family":"Peron","sequence":"first","affiliation":[{"name":"Clinical Genetics Service V. Buzzi Children's Hospital ICP Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service V. Buzzi Children's Hospital ICP Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Norris","sequence":"additional","affiliation":[{"name":"JC Self Research Institute Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania M.","family":"Bova","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit V. Buzzi Children's Hospital ICP Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Pediatric Clinical Genetics Unit Fondazione MBBM Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Weber","sequence":"additional","affiliation":[{"name":"Pediatrics Clinic Vita\u2010Salute San Raffaele University Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Wood","sequence":"additional","affiliation":[{"name":"JC Self Research Institute Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"JC Self Research Institute Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Mastrangelo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit V. 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