top of page

De Novo

A genetic alteration that is present for the first time in one family member as a result of a variant (mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called: de novo variant, new mutation, or new variant.

LATEST BLOG POSTS

Error 404: Gene Not Found

SORD-Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype

We All Know the Drill

Experts in CMT_Full Color_Website Logo

Detroit, Michigan, USA

All information published on this website is provided for informational and reference purposes only and should not be construed as medical advice or as a medical diagnosis. This website is not intended to replace or to substitute the opinion and advice of your physician. Always consult with your physician.

©2020 - 2025 Experts in CMT

bottom of page