We welcome additional studies by Dr Bottomley et al on factor V Leiden mutation in other FEVR families and happy to note that they find our report ‘interesting’. However, it is not surprising that they did not find additional families containing this mutation in their cohort. We have discussed in our short report most of the limitations of our study mentioned by Bottomley et al in their comments. Additionally, as correctly stated by Bottomley et al, we have not claimed the effect of mutation on phenotype or its association in other FEVR families but we speculated and hypothesized that similar thing could be involved in variable phenotype. For instance, we discussed that such digenic mutation is not widespread (abstract), segregation observed is suggestive of linkage or unlikely (discussion), there is no correlation between the genotype and phenotype (discussion), FZD4 mutation alone is sufficient to cause a severe phenotype in other families (discussion) and lack of functional studies or availability of proper patients to understand the contribution of Leiden mutation in the presence of FZD4 gene mutation (discussion). In addition, we are aware of the fact that 5% of the population contains Leiden mutation, but it still does not address the question why only the affected individuals in the family have the mutant allele and not the unaffected individuals? Finally, we do agree that further studies are needed to understand the variable phenotypes in FEVR patients.