Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder - PubMed (original) (raw)

Figure 5

Correlations between residual enzyme activity and clinical severity in patient cells. Panel A is a box-whisker plot showing residual activities for Hprt as measured by the intact fibroblast assay for 56 patients previously reported (Itiaba et al., 1978; Bakay et al., 1979; Gottlieb et al., 1982; Warzok et al., 1982; Fattal et al., 1984; Lorentz et al., 1984; Mitchell and McInnes, 1984; Hersh et al., 1986; Tarle et al., 1991; Gilbert et al., 1992; Sege-Peterson et al., 1992; Jenkins et al., 1994; Erhard et al., 1997; Puig et al., 2001; Zoref-Shani et al., 2003, 2004; Cherian and Crompton, 2005; Cossu et al., 2006; Jinnah et al., 2010; Sarafoglou et al., 2010; Torres et al., 2010). Panel B is a box-whisker plot showing residual activities for Hprt as measured by the intact erythrocyte assay for 54 patients previously reported (Shnier et al., 1972; Ludman et al., 1992; Sege-Peterson et al., 1992; Davidson et al., 1994; Willers et al., 1999; Puig et al., 2001; Augoustides-Savvopoulou et al., 2002; Bertelli et al., 2004; Kassimatis et al., 2005; Cossu et al., 2006; Garcia et al., 2008; de Gemmis et al., 2010; Corrigan et al., 2011). Corresponding values for Gprt activity were not available. In these plots, the whiskers show the whole data range, while the boxes show the 25th and 75th percentiles of the data. The horizontal line depicts the median. These data must be interpreted with caution, because they were collected from published reports from different laboratories, each with different methods for the assay and different strategies for normalization of the results.