{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T23:08:40Z","timestamp":1790636920097,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T00:00:00Z","timestamp":1464307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF\u20102014M3C7A1046049"],"award-info":[{"award-number":["NRF\u20102014M3C7A1046049"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>There have been a few reports of GM3 synthase deficiency since the disease of the ganglioside biosynthetic pathway was first reported in 2004. It is characterized by infantile\u2010onset epilepsy with severe intellectual disability, blindness, cutaneous dyspigmentation, and choreoathetosis. Here we report the cases of two Korean female siblings with <jats:italic>ST3GAL5<\/jats:italic> variants, who presented with a Rett\u2010like phenotype. They had delayed speech, hand stereotypies with a loss of purposeful hand movements, and choreoathetosis, but no clinical seizures. One of them had microcephaly, while the other had small head circumference less than 10th centile. There were no abnormal laboratory findings with the exception of a high lactate level. <jats:italic>MECP2\/CDKL5\/FOXG1<\/jats:italic> genetic tests with an array comparative genomic hybridization revealed no molecular defects. Through whole\u2010exome sequencing of the proband, we found compound heterozygous <jats:italic>ST3GAL5<\/jats:italic> variants (p.Gly201Arg and p.Cys195Ser), both of which were novel. The siblings were the same compound heterozygotes and their unaffected parents were heterozygous carriers of each variant. Liquid chromatography\u2013mass spectrometry analysis confirmed a low level of GM3 and its downstream metabolites, indicating GM3 synthase deficiency. These cases expanded the clinical and genetic spectrum of the ultra\u2010rare disease, GM3 synthase deficiency with <jats:italic>ST3GAL5<\/jats:italic> variants. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37773","type":"journal-article","created":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T14:42:57Z","timestamp":1464360177000},"page":"2200-2205","source":"Crossref","is-referenced-by-count":58,"title":["GM3 synthase deficiency due to <i>ST3GAL5<\/i> variants in two Korean female siblings: Masquerading as Rett syndrome\u2010like phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Jin Sook","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Gachon Institute of Genome Medicine and Science Gachon University Gil Medical Center Incheon Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongjin","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Pediatric Clinical Neuroscience Center Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Joong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Pediatric Clinical Neuroscience Center Seoul National University Children's Hospital Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junghan","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Bundang Hospital Seoul National University College of Medicine Gyeonggi\u2010do 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