3 ms·
She had Snijders Blok-Campeau syndrome, which is caused by mutations in the CHD3 protein, which manages the structure of DNA. In her case, it was this missense
by HedonicEscal8r 3mo ago
She had Snijders Blok-Campeau syndrome, which is caused by mutations in the CHD3 protein, which manages the structure of DNA. In her case, it was this missense variant: https://www.ncbi.nlm.nih.gov/clinvar/variation/422607/ https://www.ncbi.nlm.nih.gov/clinvar/variation/422607/
The severity of Snijders Blok-Campeau syndrome can vary, but it sounds like Mei only suffered from mild intellectual disability.
https://en.wikipedia.org/wiki/Snijders_Blok%E2%80%93Campeau_syndrome https://en.wikipedia.org/wiki/Snijders_Blok%E2%80%93Campeau_...
https://www.nature.com/articles/s41586-026-10113-6 https://www.nature.com/articles/s41586-026-10113-6