The first world report of a homozygous mutation in inositol monophosphatase 1 (IMPA1) gene two boy with autismin an Iranian family
Publish place: 2nd International & 10th National Neurogenetic Congress,
Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
NGCMED10_125
تاریخ نمایه سازی: 16 تیر 1397
Abstract:
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.
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Authors
Parvaneh Keshavarz
Celluar and Molecular Research Center, School of Medicine (Department of Genetics), Guilan University of Medical Science, Rasht,Iran- Division of Cytogenetic, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran
Forozan Milani
Reproductive Health Research Center, Guilan university of Medical Sciences, Rasht, Iran
Arash Davoudi
Division of Cytogenetic, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran
Nadia Mirzaei Gisomi
Division of Molecular Genetics, Medical Genetic Laboratory of Dr. Keshavarz, Rasht, Iran