{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:20:33Z","timestamp":1790896833897,"version":"4.1.0"},"reference-count":16,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Comparative and Functional Genomics"],"published-print":{"date-parts":[[2008]]},"abstract":"<jats:p>Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated in families and twin studies. About 5\u201310% of autism cases are associated with chromosomal abnormalities or monogenic disorders. The identification of genes involved in the origin of autism is expected to increase our understanding of the pathogenesis. We report on the clinical, cytogenetic, and molecular findings in a boy with autism carrying a de novo translocation t(7;16)(p22.1;p11.2). The chromosome 16 breakpoint disrupts the paralogous SLC6A8 gene also called SLC6A10 or CT2. Predicted translation of exons and RT-PCR analysis reveal specific expression of the creatine transporter paralogous in testis and brain. Several studies reported on the role of X-linked creatine transporter mutations in individuals with mental retardation, with or without autism. The existence of disruption in SLC6A8 paralogous gene associated with idiopathic autism suggests that this gene may be involved in the autistic phenotype in our patient.<\/jats:p>","DOI":"10.1155\/2008\/609684","type":"journal-article","created":{"date-parts":[[2008,5,22]],"date-time":"2008-05-22T12:35:26Z","timestamp":1211459726000},"page":"1-5","source":"Crossref","is-referenced-by-count":16,"title":["The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain"],"prefix":"10.1155","volume":"2008","author":[{"given":"Nadia","family":"Bayou","sequence":"first","affiliation":[{"name":"Human Genetics Laboratory, Faculty of Medicine of Tunis, 15 rue Djebel Lakdhar La Rabta, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"M'rad","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, Faculty of Medicine of Tunis, 15 rue Djebel Lakdhar La Rabta, Tunis 1007, Tunisia"},{"name":"Charles Nicole Hospital, Human Genetics Department, Boulevard 9 Avril, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlem","family":"Belhaj","sequence":"additional","affiliation":[{"name":"Razi Hospital, Child and Adolescent Psychiatry Department, La Manouba 2010, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussein","family":"Daoud","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Tours, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) U619, 2bis, Bd Tonnell\u00e9 37000 Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramzi","family":"Zemni","sequence":"additional","affiliation":[{"name":"Human Genetics Laboratory, Faculty of Medicine of Tunis, 15 rue Djebel Lakdhar La Rabta, Tunis 1007, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Briault","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Tours, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) U619, 2bis, Bd Tonnell\u00e9 37000 Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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