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
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RESULTS
Thirty patients were included in this study. Twentyfive
(83.3%) were boys and five (16.7%) were girls. The
mean age was 8.43 ± 4.06 years (minimum 3; maximum
18). Three patients had a positive family history of ASD.
Based on the autism severity ranking considering the
CARS points, the majority of the features in the working
group was determined as severe. Sequencing of the NRXN1
gene revealed two different mutations, namely, S14L and
L748I (Table 1).
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