No association of allelic variant of HOXA1 and autism

The HOXA1 gene is a homeobox gene involved in neurodevelopment in mice. Knockout mice are described with abnormal development of the 4th, 5th and 6th rhombomeres. Recently a variant of the HOXA1 and the paralogous HOXB1 gene was described in humans (Ingram et al., 2000). The authors further described an observed increase in the proportion of the variant in individuals with an autism spectrum disorder. We attempted to replicate this finding in a sample of 51 trios with classic autism. Subjects and Methods: We describe a sample of 51 individuals with autism diagnoses confirmed with the ADI and ADOS-G assessment tools. Trios were genotyped for the HOXA1 variant and results were assessed using the TDT. Results: In contrast to the findings of Ingram et al., we found only a small excess of the described HOXA1 variant in our autistic sample. However given the low frequency of the allele and the small sample size we intend to investigate this association in a further 60 trios and will report our findings.