Autistic disorder
(MIM#209850) is a multi-factorial and complex neurodevelopmental
disorder characterized by three classes of symptoms including :
- impairments in verbal and non-verbal communication,
- impairments in reciprocal social interactions,
- and repetitive or stereotyped behaviors and interests.
Diagnostic assessment is performed before 3 years of age. Symptoms and
behaviors are persistent throughout life with changes over the course
of development. Autism is a common disorder with the estimate close to
1 per 1,000, more prevalent in boys (sex ratio of 4 male to one
female). The genetic etiology of autism was recognized two decades
after the first description of autistic children by Pr L Kanner in
1943. The heritability is now estimated at above 90 %. Autism
appears to be the most highly genetic of the psychiatric disorders.
Three independent genome-wide scan studies have
found some evidence for linkage on chromosome 2q24-q33
region. Screening of genetic variants in nine candidate genes was
performed in autistic patients. Two single nucleotide polymorphisms
(SNPs), rs2056202 and rs2292813, both within AGC1 gene, showed
evidence for divergent distribution between subjects and controls. The
two SNPs were further genotyped in 438 autistic families. Evidence for
linkage was supported by multipoint non-parametric Lod scores
analysis. Excess transmission was found by the transmission
disequilibrium test (TDT). AGC1 encodes the calcium-dependent
mitochondrial aspartate/glutamate carrier. AGC1 protein is the only
form of the mitochondrial aspartate/glutamate carrier expressed in
neurons and neural stem cells.
In order to confirm this association and to decipher any potential
etiological role of AGC1 in autism, in collaboration with the Centre
National de Séquençage at the Genoscope in Evry, we are currently
screening for mutations or specific variants in the AGC1 gene in
autistic patients.
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