Intermediate lengths of the C9ORF72 hexanucleotide repeat expansion may synergistically contribute to attention deficit hyperactivity disorder in child and his father: case report. Issue 2 (4th March 2021)

• Record Type: Journal Article
• Authors: Maj, Carlo; Chiarenza, Giuseppe Augusto; Faraone, Stephen V.; Miriam, Ciani; Gennarelli, Massimo; Bonvicini, Cristian; Scassellati, Catia
• Is Part Of: Neurocase. Volume 27:Issue 2(2021)
• Page Start: 138
• Page End: 146
• Publication Date: 2021-03-04
• Subjects: C9ORF72 hexanucleotide repeat expansion -- attention Deficit Hyperactivity Disorder -- targeted exome sequencing -- intermediate lengths of expansion -- trios; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1887275
• Languages: English
• ISSNs: 1355-4794

Abstract

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 for C9ORF72 expansion. Ten ADHD susceptibility genes were further investigated in the family. We revealed that son and father shared an intermediate C9ORF72 expansion and common variants in CDH23, ITGAE and MTRR . Bioinformatics highlighted a C9ORF72 - MTRR interaction. This case-report underlines that in relatives with ADHD, carrying variants in ADHD susceptibility genes, the intermediate C9ORF72 repeats might have a potentially pathogenetic synergistic effect, supporting the multifactorial polygenic aetiopathogenetic profile of disease".