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.