February 2011

Different Phenotypes Among Lesch-Nyhan Variants: Clinical Reality or Limitation of Ascertainment?

Author Affiliations

Author Affiliations: Departments of Neurology, Human Genetics, and Pediatrics, Emory University School of Medicine, Atlanta, Georgia.


Copyright 2011 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2011

Arch Neurol. 2011;68(2):264-271. doi:10.1001/archneurol.2010.360

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

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