Researchers explore how symptom severity in autism is linked to specific mutations

A publication posted online in Molecular Psychiatry explores the link between symptom severity in autism and specific gene mutations.

Initiated by a team of experts at Columbia University, the study examined data from more than 2,500 participants diagnosed with autism, with an aim at better understanding truncating mutations.

The study uncovered that, when comparing the participants utilizing a series of IQ tests, as well as verbal and nonverbal assessments, children with autism scored similar differences as the children with truncating mutations.

From the study: “We find that exons biased toward prenatal and postnatal expression preferentially contribute to autism spectrum disorders (ASD) cases with lower and higher IQ phenotypes.”

“These results suggest that exons, rather than genes, often represent a unit of effective phenotypic impact for truncating mutations in autism,” the study says.

“We find that each ASD gene with recurrent mutations can be characterized by a parameter, phenotype dosage sensitivity (PDS), which quantifies the relationship between changes in a gene’s dosage and changes in a given disease phenotype.”

The study concludes, “We further demonstrate analogous relationships between exon LGDs and gene expression changes in multiple human tissues. Therefore, similar phenotypic patterns may be also observed in other human genetic disorders.”

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