Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children

Abstract

Background: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes. Subjects and methods: This case-control study included 20 children with autism (4.57 ± 1.36 years) (13 males and 7 females) and a normal control group. Assessments by DSM-IV-TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for MTHFR gene mutation C677T was performed on amplified DNA by PCR and subsequent reverse hybridization to immobilized allele-specific biotinylated oligonucleotides probes. Results: The relation between low birth weight and occurrence of autism is highly significant (P 0.05). Conclusion: Although the 677CT variant alleles significantly increased in patients with autism, it is unlikely that this association alone is sufficient to produce the complex array of symptoms associated with autism. Therefore, a search for additional genomic, metabolic, epigenetic and environmental risk factors should be undertaken.

Keywords

• Autism
• MTHFR gene
• Polymorphism
• Genotype–phenotype
• Egyptian children