The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene in two boys with autism in an Iranian family

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis involving interactions between genetic, epigenetic and environmental factors. Yet, only a small fraction of potentially causal genes—about 65 genes out of an estimated several thousand—are known with strong genetic evidence from whole genome sequencing studies.Methods: Here we present an Iranian family of two children affected by obvious symptoms of autism, which consult to our laboratory for screening a third child during pregnancy. Whole-exome sequencing (WES) test followed by mutation confirmation direct sequencing were performed for one affected boy. Foe detection of any microdeletion or duplication. CGH array was request for another boy. The detected mutation was confirmed in parent of affected boys and fetus by direct Sanger sequencing. Results: As a result of WES a homozygote mutation was found in IMPA1 gene at exon8: c.G657A for affected boy. The foregoing mutation were confirmed for another boy in homozygosity form. Heterozygosity were observed in his parents by direct Sanger sequencing. Then prenatal diagnosis was performed in amniotic fluid of fetus of pregnancy at 18 weeks. The result of fetus genotype was heterozygote in above mutation as well. Conclusion: We concluded the IMPA1 can play as a candidate gene for ASD. Further study for investigation of IMPA1gene in other ASD patinas is recommended.

کلیدواژه ها:

IMPA1 ، Autism spectrum disorder ، c.G657A ، mutation