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Comparative and Functional Genomics
Volume 2008 (2008), Article ID 609684, 5 pages
http://dx.doi.org/10.1155/2008/609684
Research Article

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

1Human Genetics Laboratory, Faculty of Medicine of Tunis, 15 rue Djebel Lakdhar La Rabta, Tunis 1007, Tunisia
2Charles Nicole Hospital, Human Genetics Department, Boulevard 9 Avril, Tunis 1007, Tunisia
3Razi Hospital, Child and Adolescent Psychiatry Department, La Manouba 2010, Tunisia
4Faculté de Médecine de Tours, Institut National de la Santé et de la Recherche Médicale (INSERM) U619, 2bis, Bd Tonnellé 37000 Tours, France

Received 15 January 2008; Revised 25 March 2008; Accepted 27 March 2008

Academic Editor: S. Scherer

Copyright © 2008 Nadia Bayou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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 5–10% 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.