Protein functionality as a potential bottleneck for somatic revertant variants

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...