Thursday, May 7, 2020

Mutations in the Autism Gene

From Spectrum:
Individuals with mutations in a gene called TRIO may have a range of conditions, including varying degrees of intellectual disability and anomalous head size, a new study has found1. The expression of those traits depends on where in the gene the mutation lies. The work fills the gap between clinical observations and genetic tests to show how different mutations in the gene track with distinct sets of traits. TRIO controls the growth and migration of neurons in the brain. Previous research has linked rare TRIO mutations to autism and autism-like behaviors.

In the new study, an international team of researchers identified 24 people aged 3 to 40 who have mutations in TRIO. They sequenced the exomes — the protein-coding portions of the genome — of these people and found that many of the mutations cluster in two domains of the gene. Clinical observations linked distinct sets of physical and cognitive traits to each domain. “We realized that actually that particular gene caused probably two disorders, depending on where the gene fault lay,” says Diana Baralle, professor of genomic medicine at the University of Southampton in the United Kingdom, who co-led the study. One group has mutations in a domain called GEFD1. These individuals have an unusually small head — microcephaly — and generally have mild intellectual disability. Some have children and live independently or with some support from their families. (Read more.)
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