Intermediate lengths of the C9ORF72 hexanucleotide repeat expansion may synergistically contribute to attention deficit hyperactivity disorder in child and his father: case report
STS Instructor Authored by Giuseppe A. Chiarenza
Share
Study at a glance
- Area
- ADHD & Attention
- Study type
- Case study
- Authors
- Maj C, Chiarenza GA, Faraone SV, Ciani M, Gennarelli M, Bonvicini C, Scassellati C
- Journal
- Neurocase
- Year
- 2021
- Participants
- 2 (son and father), from a screened cohort of 116 children with ADHD, 20 parents and 77 controls
- Population
- Children, Adults
- Protocol
- genetic screening of C9ORF72 repeat length and ten ADHD susceptibility genes
Key findings
- Son and father with ADHD carried the same intermediate-length C9ORF72 repeat
- Both also shared common variants in the CDH23, ITGAE and MTRR genes
- Bioinformatic analysis pointed to a possible C9ORF72–MTRR interaction
- Supports a many-genes (polygenic) view of ADHD; a single family only
A genetic case report of a boy and his father who both have ADHD, drawn from a larger group of children with ADHD, parents and controls who were all screened for a repeat expansion in the C9ORF72 gene. Father and son shared a medium-length version of this repeat along with common variants in several genes previously linked to ADHD, and computer analysis suggested an interaction between C9ORF72 and one of those genes (MTRR). The authors propose that the repeat may add to the effect of other susceptibility genes, consistent with ADHD arising from many genes acting together; as a single-family report it cannot establish cause.