[HTML][HTML] Protein functionality as a potential bottleneck for somatic revertant variants
FMP Kaiser, I Reisli, I Pico-Knijnenburg… - Journal of Allergy and …, 2021 - jacionline.org
To the Editor: Somatic genome stability has been considered the rule, rather than the
exception; yet, somatic mutations are driving factors in many diseases with a genetic
background. Conversely, somatic reversion of germline mutations has been shown to
mitigate pathogenicity by partially or completely restoring gene function. Such somatic
revertant variants have been observed across a broad spectrum of immunodeficiencies and
often result in atypical phenotypes that present a diagnostic and therapeutic challenge. 1 In …
exception; yet, somatic mutations are driving factors in many diseases with a genetic
background. Conversely, somatic reversion of germline mutations has been shown to
mitigate pathogenicity by partially or completely restoring gene function. Such somatic
revertant variants have been observed across a broad spectrum of immunodeficiencies and
often result in atypical phenotypes that present a diagnostic and therapeutic challenge. 1 In …
