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closeComment on genotype-phenotype correlations, B. Tümmler & A. van Barneveld
Posted by Burkhard on 28 Nov 2012 at 09:51 GMT
Unfortunately, the final composite parameter used by some results from a combination of experimental readouts not all relying on direct measurement of CFTR-mediated Cl− secretion, thus leading to conflicting results and precluding good correlations with clinical symptoms
http://plosone.org/article/info:doi/10.1371/journal.pone.0047708#article1.body1.sec1.p4
By applying the Rotterdam protocol, the tight correlations between chloride secretory responses measured by ICM, CFTR genotype and clinical phenotype have been reported by Veeze et al. (JCI 1994), Bronsveld et al. (JCI 2001) and Stanke et al. (JMG 2008). Our publication (ref. 21) demonstrates the association between residual chloride secretion measured by ICM and F508del CFTR mutant protein phenotype in F508del homozygous individuals. One F508del homozygote exhibited exceptionally high residual chloride secretion consistent with his very mild clinical phenotype. In other words, in contrast to the authors’ ill-guided summary the outcome of ICM measurements according to the Rotterdam protocol correlated very well with clinical phenotype.