Sir,
We thank Khan et al1 for their insightful comments on our recent paper.2 Their suggestion of including FOXC2 in the screening set of genes is very interesting. It opens a possibly new aspect of an interesting extension to the associated phenotype in the reported Chinese family. We have already collected 18 genomic DNA samples from three generations of this family. Linkage to FBN1 locus cannot be ruled out by microsatellite markers. A novel missense mutation was identified in FBN1 gene, which co-segregated with the ocular phenotype (data not published). Association of single-nucleotide polymorphisms in TGFβR2 gene was not confirmed. Obviously, this is different from the features associated to disposition to aortic dilatation and dissection of a UK family reported by Law et al.3 FOXC24, 5 or other genes may be the possible genetic factors as Khan et al pointed out. Whole-genome scanning using single-nucleotide polymorphism chips is our future strategy, which we hope can answer the question shortly.
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Shen, W., Fu, Q., Xu, F. et al. Response to Khan et al. Eye 25, 529–530 (2011). https://doi.org/10.1038/eye.2010.214
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DOI: https://doi.org/10.1038/eye.2010.214
