Our latest publication detailing networks of genes implicated in autism and intellectual disability.
Last week our team published its newest work in the realm of autism genetics in Frontiers in Psychiatry titled, «Widespread Genotype-Phenotype Correlations in Intellectual Disability.» For those of you who don’t follow genetics closely, that title probably means little to you. So I’m going to try to explain what we found and why we think it’s so interesting.
This work was performed in conjunction with one of my primary collaborators, Dr. Alex Feltus at Clemson University and one of his students, Zach Gerstner. We took a large group of genes associated with intellectual disability (mental retardation) and divided them into subgroups based on whether the conditions had the following clinical features:
- high co-occurring rates of autism
- high co-occurring rates of epilepsy
- association with different types of facial malformations
- association with neurodegeneration or other neurodegenerative features like brain atrophy and certain movements disorders
CFD = complex (multiple) facial malformations; SFD =…
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Autism Traits are Predictive of Specific Gene Networks in Intellectual Disability remind me some findings on another study not on genetics but on «Environmental and State Level Regulatory Factor Affect the Incidence of Autism and Intellectual Disability», by Andrey Rzhetsky, March 14, 2014 from University of Chicago.
That investigation found that ASD incidence rate were strongly linked to population normalized rate of congenital malformations using congenital malformations of the reproductive system in male.A 283% ASD incidence increase of for every percent increase in the incidence of malformation.This study also in the Other Congenital Malformations in Male results state that congenital malformations in male appeared to significantly affect both phenotypes: 31% ASD rate increase and 43%ID rate increase.For this comment I’m using CFD(complex facial malformation) and SFD(simple facial malformation) as my link between both studies.In my opinion a complementary relation between this two studies is present.
Finally because during pregnancy no lab test or exams are conducted to screen for ASD maybe during or after malformations diagnosis, the follow-up an further examinations alter the fetus environment creating or promoting changes as a response to new environmental stimuly.Gene mutations or changes in expression because changes in the environment are factors in this equation.
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