Bernard–Soulier syndrome: first human case due to a homozygous deletion of GP9 gene

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

“… 3 , 46 , 47 Furthermore, GPIX and GPIbα were absent in MKs and platelets from a BSS type C patient carrying a homozygous deletion of the entire GP9 gene. 48 In contrast, BSS patients carrying the W127X pathogenic variant in GP9, originally described in Japan, 49 exhibit a deficiency of GPIX expression while displaying residual surface expression of GPIbα. 50 Subsequently, Takata et al.…”