Screening of Male Patients with Autism Spectrum Disorder for Creatine Transporter Deficiency

 

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Abstract

Creatine deficiency syndromes (CDS) are newly identified genetic disorders that result in neurological impairment of cognition and communication. The purpose of our study was to screen 100 male subjects with autism spectrum disorder for mutations in the SLC6A8 gene in order to determine the frequency of this genetic disorder in this population. One hundred males ages 3-18 years diagnosed with autism spectrum disorder based on DSM-IV criteria were recruited. DNA sequence analysis was performed on all subjects for creatine transporter gene (SLC6A8) defects. One subject had a novel unclassified variant in the SLC6A8 gene exon 13: c.1890G>C. Given that autistic features are found in a number of patients with CDS, SLC6A8 deficiency as well as the treatable forms of CDS should be included in the differential diagnosis of patients with autism spectrum disorder.

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Correspondence

A. NewmeyerMD 

Department of Pediatrics

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue

Cincinnati

45229-3039 Ohio

USA

Phone: +1/513/636 46 11

Fax: +1/513/636 38 00

Email: amy.newmeyer@cchmc.org