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

Introduction: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorderwith a strong geneticbasis involving interactions between genetic, epigenetic and environmental factors.Yet, only a small fraction ofpotentially causal genes—about 65 genes out of an estimated several thousand—are known with strong geneticevidence from whole genome sequencing studies.Methods: Here we present an Iranian family of two children affected byobvious symptoms of autism, whichconsult to our laboratory for screening a third child during pregnancy. Whole-exome sequencing (WES) testfollowed by mutation confirmation direct sequencing were performed for one affected boy. Foe detection of anymicrodeletion or duplication. CGH array was request for another boy. The detected mutation were confirmed inparent 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 affectedboy. The foregoing mutation were confirmed for another boy in homozygosity form. Heterozygosity wereobserved in him parents by direct Sanger sequencing. Then prenatal diagnosis were performed in amniotic fluidof fetus of pregnancy at 18 week. The result of fetus genotype were heterozygote in above mutation as well.Conclusion: We concluded the IMPA1 can play as a candidate gene for ASD. Further study for investigation ofIMPA1genein other ASD patinas is recommended.

Keywords:

IMPA1 , Autism spectrum disorder , c.G657A , Mutation