{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T12:14:06Z","timestamp":1782130446973,"version":"3.54.5"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:p>Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a recently described very rare autosomal recessive neurodevelopmental disorder. This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4 (p.E256K) as the underlying genetic cause. SLC1A4 gene encodes for the amino acid transporter ASCT1 that is necessary for serine cellular transport to neurons. We clinically evaluated 2 Pakistani siblings with severe global developmental delay, progressive microcephaly, and seizure disorder. We performed exome sequencing, Sanger sequencing, and segregation analysis to identify the genetic cause of the phenotype followed by in silico analysis to evaluate the pathogenicity of the identified mutation. We identified a novel homozygous variant (c.573T&gt;G) in both patients. The mutation is predicted to cause nonsense mutation (p.Y191*) in the ASCT1 protein. Here, we report the fifth disease causing mutation in SLC1A4 gene and review all previously reported cases.<\/jats:p>","DOI":"10.1177\/2329048x19880647","type":"journal-article","created":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T00:14:26Z","timestamp":1570580066000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":17,"title":["A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder"],"prefix":"10.1177","volume":"6","author":[{"given":"Hanadi A.","family":"Abdelrahman","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Al-Shamsi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"John","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates"},{"name":"Zayed Center for Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,10,8]]},"reference":[{"key":"bibr1-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103104"},{"key":"bibr2-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12637"},{"key":"bibr3-2329048X19880647","doi-asserted-by":"crossref","unstructured":"Srour M, Hamdan FF, Gan-Or Z, et al. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clin Genet. 2015;88:E1\u2013E4. doi:10.1111\/cge.12605.","DOI":"10.1111\/cge.12605"},{"key":"bibr4-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.44"},{"issue":"10","key":"bibr5-2329048X19880647","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1021\/jm00232a012","volume":"19","author":"Kent WJ","year":"1976","journal-title":"J Med Chem"},{"key":"bibr6-2329048X19880647","first-page":"1","volume":"45","author":"Wasmuth EV","year":"2016","journal-title":"Nucleic Acid Res"},{"key":"bibr7-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku340"},{"key":"bibr8-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1577"},{"key":"bibr9-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1016\/j.neures.2004.02.004"},{"key":"bibr10-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0156551"},{"key":"bibr11-2329048X19880647","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.04.010"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19880647","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X19880647","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19880647","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:57Z","timestamp":1777391877000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X19880647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,1]]},"references-count":11,"alternative-id":["10.1177\/2329048X19880647"],"URL":"https:\/\/doi.org\/10.1177\/2329048x19880647","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,1]]},"article-number":"2329048X19880647"}}