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The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain
Joint Authors
Ben Jemaa, Lamia
Helayem, M. Béchir
Daoud, Hussein
Bayou, Nadia
Briault, Sylvain
Belhadj, Ahlem
Zemni, Ramzi
M'rad, Ridha
Chaabouni, Habiba
Source
International Journal of Genomics
Issue
Vol. 2008, Issue 2008 (31 Dec. 2008), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2008-04-06
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Bayou, Nadia& M'rad, Ridha& Belhadj, Ahlem& Daoud, Hussein& Zemni, Ramzi& Briault, Sylvain…[et al.]. 2008. The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain. International Journal of Genomics،Vol. 2008, no. 2008, pp.1-5.
https://search.emarefa.net/detail/BIM-987873
Modern Language Association (MLA)
Bayou, Nadia…[et al.]. The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain. International Journal of Genomics No. 2008 (2008), pp.1-5.
https://search.emarefa.net/detail/BIM-987873
American Medical Association (AMA)
Bayou, Nadia& M'rad, Ridha& Belhadj, Ahlem& Daoud, Hussein& Zemni, Ramzi& Briault, Sylvain…[et al.]. The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain. International Journal of Genomics. 2008. Vol. 2008, no. 2008, pp.1-5.
https://search.emarefa.net/detail/BIM-987873
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-987873