{Reference Type}: Case Reports
{Title}: Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey.
{Author}: van der Smagt JJ;Lampri AP;de Lange I;Alders M;Houben ML;Koudijs MJ;van Jaarsveld RH;
{Journal}: Eur J Med Genet
{Volume}: 69
{Issue}: 0
{Year}: 2024 Jun 24
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2024.104949
{Abstract}: Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elements function. Additional lines of evidence are therefore needed to recognize non-coding variants as pathogenic. We here present a case where a collective body of evidence resulted in the identification and conclusive classification of a pathogenic deep intronic variant in ATRX. This report demonstrates the utility of a multi-platform approach in aiding the identification of pathogenic variants outside coding regions. Furthermore, it marks the first reported instance of a deep intronic pathogenic variant in ATRX.