HPRT1 and Lesch-Nyhan syndrome: Zhang et al. (2019) reported two hotspot variants, c.508 C > T and c.151 C > T, which led to premature translation termination. These variants are different from the one in our patient at the genetic locus. Functionally, our patient’s variant had a more profound impact on the three-dimensional structure of the HGPRT protein, as predicted by in silico analysis, which might be related to the more complex clinical manifestations. Furthermore, we have conducted a comprehensive statistical analysis of LNS patients reported in China over the past 5 years (Supplementary Table S3).