Response to Trevisson et al.

Abstract

Overall, these data only demonstrate that the p.Asp208His substitution is a “typical” loss-of-function COQ6 mutation; they do not provide any explanation of why it is associated with schwannomatosis, and it is not possible to exclude that this variant is just an incidental finding unrelated to the disease is not possible. Schwannomatosis requires adequate follow-up to promptly detect novel schwannomas and possible complications. The identification of a novel gene associated with schwannomatosis has important implications in genetic counseling because it allows both the prenatal and the presymptomatic diagnosis of this adult-onset condition in at-risk family members. Unless further experimental evidence explaining the link between the COQ6 heterozygous missense mutation and the susceptibility to schwannomatosis is provided, we are skeptical about the opportunity of screening for the COQ6 gene in patients affected by schwannomatosis (and screening for schwannomas in individuals with heterozygous mutations in COQ6). DISCLOSURE The authors declare no conflict of interest.

DOI: 10.1038/gim.2014.212

Cite this paper

@article{Zhang2015ResponseTT, title={Response to Trevisson et al.}, author={Keqiang Zhang and Jia-Wei Lin and Wen-Ta Chiu and Yun Yen}, journal={Genetics in Medicine}, year={2015}, volume={17}, pages={313-314} }