ABSTRACT
We have summarized the abstract section as follows: “We report a son and his father affected by Attention Deficit Hyperactivity Disorder (ADHD). They belonged to a larger cohort (116 ADHD children, 20 related parents, 77 controls) wholly genotyped forC9ORF72 expansion. Ten ADHD susceptibility genes were further investigated in the family. We revealed that son and father shared an intermediateC9ORF72 expansion and common variants inCDH23, ITGAE and MTRR. Bioinformatics highlighted aC9ORF72-MTRR interaction. This case-report underlines that in relatives with ADHD, carrying variants in ADHD susceptibility genes, the intermediateC9ORF72 repeats might have a potentially pathogenetic synergistic effect, supporting the multifactorial polygenic aetiopathogenetic profile of disease”.
Acknowledgments
The authors thank the patients and their families for their cooperation. Moreover, they also thank the following neuropsychiatrists for sample recruitment: A. Tiberti, P. Effedri, E. Filippini, V. Valenti, S. Conte, M. Pezzani, D. Arisi, and G. Piccini.
Disclosure statement
The authors CM, GAC, CB, MG, and CS have no conflicts of interest to disclose.
In the past year, Prof Faraone received income, potential income, travel expenses and/or research support from Arbour, Pfizer, Ironshore, Shire, Akili Interactive Labs, CogCubed, Alcobra, VAYA Pharma, Neurovance, Impax, NeuroLifeSciences. With his institution, he has US patent US20130217707 A1 for the use of sodium-hydrogen exchange inhibitors in the treatment of ADHD.