More recently, Ponleitner et al. documented a male patient with mild renal impairment and microhematuria, in whom whole-exome sequencing revealed novel variants in both the COL4A4 (c.1181G > T, p.Gly394Val) and GLA (c.460A > G, p.Ile154Val) genes; however, the clinical and laboratory presentation was more consistent with Alport syndrome, and the pathogenic role of the GLA variant remained uncertain [22]. This evidence concerns the gene COL4A4 and Alport syndrome.