Intermediate lengths of the C9ORF72 hexanucleotide repeat expansion may synergistically contribute to attention deficit hyperactivity disorder in child and his father: case report

• Published in: Neurocase Vol. 27; no. 2; pp. 138 - 146
• Main Authors: Maj, Carlo, Chiarenza, Giuseppe Augusto, Faraone, Stephen V, Miriam, Ciani, Gennarelli, Massimo, Bonvicini, Cristian, Scassellati, Catia
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis Ltd 01.04.2021
• Subjects: Attention Deficit Disorder with Hyperactivity - genetics; Attention deficit hyperactivity disorder; Bioinformatics; C9orf72 Protein - genetics; Case reports; Child; Fathers; Genotype; Humans; Male; intermediate lengths of expansion; C9ORF72 hexanucleotide repeat expansion; attention Deficit Hyperactivity Disorder; trios; targeted exome sequencing
• ISSN: 1355-4794; 1465-3656; 1362-4970
• DOI: 10.1080/13554794.2021.1887275

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