The recent article by Sarafoglou and colleagues1 includes several statements that deserve further attention. First, the G550>T mutation described is incorrect. Position 550 falls in exon 8, not exon 7, and G550>T would not cause the R167>M substitution claimed. Based on the DNA sequence provided in Figure 2, the actual mutation should be G500>T.2
Fu R, Jinnah HA. Different Phenotypes Among Lesch-Nyhan Variants: Clinical Reality or Limitation of Ascertainment? Arch Neurol. 2011;68(2):264–271. doi:10.1001/archneurol.2010.360
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