PRJNA602114
WXS of Dys-ADHD
This study entailed identification of genes associated with the condition of co-morbidity between Dyslexia and Attention Deficit Hyperactivity Disorder (ADHD). Twelve exomes from an endogamous family with incidence of Dyslexia and/or ADHD were sequenced and mined for variants co-segregating with the disorder/s. On identification of 5'UTR variants in the gene FAM43A, the hitherto uncharacterized gene/protein was functionally characterized using SH-SY5Y cell lines and gene-silencing or overexpression. It turns out that FAM43A may be an endolysosomal protein interacting with GABA receptor subtype B1 and repressing associated signalling. Levels of GABA also reduced upon overexpression of the gene. We concluded from our results that FAM43A is crucial for GABA receptor trafficking and GABAergic signalling. These effects may be relevant to pathogeneses of dyslexia and ADHD where dysregulated inhibition is of concern.