DCEXS-UPF: Researchers find inherited rare genetic variants associated with autism

DCEXS-UPF: Researchers find inherited rare genetic variants associated with autism

News from the DCEXS-UPF

Nearly 3,000 families affected by Autistic Spectrum Disorder (ASD) participated in a study by researchers from thirty institutions worldwide, including Roser Corominas, from UPF and CIBERER. The results include a list of altered genes and gene expression regulatory regions in patients which are potential targets to develop future therapies.

The study is different from others conducted so far for two reasons:

  1. it explores the impact of the inherited genetic variants, rather than de novo variants that appear in the children and were not present in the parents.
  2. it focuses on structural alterations, that is, the changes in long DNA segments – deletions, duplications, insertions or inversions- while previous research analysed changes in a single nucleotides.

The researchers used whole genome sequencing technique (WGS), whichenabled the identification of structural variants that had not been detected with other techniques, due their small size or their location in non-coding regions. The authors estimate that the newly identified structural variants contribute to 11 % of the ASD cases, while the previously known variants accounted for 1.9.

“One of the main challenges with the WGS technique is the interpretation of the identified variants. We can sequence the whole genome but the functional impact of most alterations is still unknown. Therefore, sophisticated bioinformatics tools, like those used in this study, and big-scale functional analyses are essential”, says Corominas.

According to the World Health Organization, one out of 160 children suffers from autism spectrum disorder (ASD), a multifactor pathology that alters communicative skills, social behaviour and language.

More information:

Reference article:
William M. Brandler et al. Paternally inherited cis-regulatory structural variants are associated with autismScience, April 2018. DOI: 10.1126/science.aan2261