Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder

摘要

Involvement of genetic factors in autism has been established by many studies, and several X chromosomal loci have been suggested. A number of studies have implicated nonsense and mis-sense mutations in the two X-linked neuroligin genes, NLGN3 and NLGN4X, in autism spectrum disorders (ASD) (Jamain et al, 2003; Laumonnier et al., 2004). Neuroligins are synaptic adhesion molecules expressed in the central nervous system and interruption of their function is likely to have pathological consequences. This study is to identify potentially etiologic variants of the NLGN3 and NLGN4X genes in Thai children with ASD. A total of 143 cases, 122 boys and 21 girls, were included in the study (average age: 4 years and 4 months). Diagnoses were based on clinical evaluation using the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) criteria for autistic disorder (112 cases) and pervasive developmental disorder not otherwise specified (31 cases).