%0 Case Reports
%T Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey.
%A van der Smagt JJ
%A Lampri AP
%A de Lange I
%A Alders M
%A Houben ML
%A Koudijs MJ
%A van Jaarsveld RH
%J Eur J Med Genet
%V 69
%N 0
%D 2024 Jun 24
%M 38797245
%F 2.465
%R 10.1016/j.ejmg.2024.104949
%X 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.