Screening of male patients with autism spectrum disorder for creatine transporter deficiency

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 frequenc...

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Bibliographic Details
Published inNeuropediatrics Vol. 38; no. 6; p. 310
Main Authors Newmeyer, A, deGrauw, T, Clark, J, Chuck, G, Salomons, G
Format Journal Article
LanguageEnglish
Published Germany 01.12.2007
Subjects
Adolescent
Autistic Disorder - diagnosis
Autistic Disorder - metabolism
Child
Child, Preschool
Exons - genetics
Humans
Male
Membrane Transport Proteins - deficiency
Membrane Transport Proteins - genetics
Mutation - genetics
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Summary: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.
ISSN:0174-304X
DOI:10.1055/s-2008-1065353