Balkan Journal of Medical Genetics

MUTATION ANALYSIS OF THE NRXN1 GENE IN AUTISM SPECTRUM DISORDERS
Onay H1, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B
*Corresponding Author: Huseyin Onay, M.D., Ph.D., Department of Medical Genetics, Ege University School of Medicine, Bornova, Izmir, Turkey. Tel: +90-232-3903961. Fax: +90-232-3903971. E-mail: onayhuseyin@ gmail.com; huseyin.onay@ege.edu.tr
page: 17

MATERIALS AND METHODS

Thirty children and adolescents (aged 3-18) diagnosed with autism, who were followed at the Ege University Child and Adolescent Psychiatry Clinic, Autism and Developmental Disorders Department, Ege University School of Medicine, Izmir, Turkey, were included in this study. The patients’ autism diagnosis was made using (DSM-IV-TR) [13] criteria by two expert child and adolescent psychiatrists, who have been working in the autism area for the past 15 years. The Childhood Autism Rating Scale (CARS) Turkish Version [14,15] was used for all children in this study. The CARS is widely used to determine the presence and degree of autism. The CARS is an autism diagnostic schedule covering 14 functional areas that may be compromised in autism, and a final general category referring to ‘degree of autism’ [14]. The 15 items in the scale are: relating to people; imitative behavior; emotional response; body use; object use; adaptation to change; visual response; listening response; perceptive response; fear or anxiety; verbal communication; non-verbal communication; activity level; level and consistency of intellective relations; general impressions. The examiner assigned a score of 1 to 4 for each item: 1 indicates behavior appropriate for age level, while 4 indicates severe deviance with respect to normal behavior for age level. The total score range is between 15 and 60. Scores of 30 to 36 indicate mild to moderate autism and scores above 36 indicate severe autism. Chromosomal abnormalities and fragile X syndrome were excluded in all patients by karyotyping and FMR1 gene CGG expansion analysis, respectively. The NRXN1 gene mutation analysis was performed by sequencing of the coding exons and exon-intron boundaries of the gene at the Department of Medical Genetics, Molecular Genetics Laboratory, Ege University, Izmir, Turkey. Genomic DNA was isolated from peripheral blood cells by standard techniques. All polymerase chain reaction (PCR) products were sequenced by the BigDye termination method using a DNA sequencing kit (Perkin-Elmer, Foster City, CA, USA) and analyzed using The ABI PRISM® 3100 sequence analyzer (Applied Biosystems, Foster City, CA, USA).

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