ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Lesieur-Sebellin M, Wigby K, Schaefer E, Gouronc A, Chatron N, Poulat AL, Putoux A, Goldenberg A, Quibeuf M, Chambon P, Rondeau S, Barcia G, Levy J, Piard J, Kuentz P, Doco-Fenzy M, Bednarek N, Caumes R, Bouquillon S, Le Caignec C, Patat O, Khau Van Kien P, Chiesa J, Delplancq G, Bacrot S, Brisset S, Ginglinger E, Cantagrel V, Lenberg J, Friedman JR, Rio M, Scheidecker S, Malan V.
Lesieur-Sebellin M, et al.
J Med Genet. 2025 Oct 8:jmg-2025-110631. doi: 10.1136/jmg-2025-110631. Online ahead of print.
J Med Genet. 2025.
PMID: 41062261
ACTB encodes beta-actin, a highly conserved protein involved in cell motility, structure and integrity. Deletions including ACTB, and, more rarely, single-nucleotide loss-of-function variants in ACTB have been described in patients with a distinct phenotype i …
ACTB encodes beta-actin, a highly conserved protein involved in cell motility, structure and integrity. Deletions including ACTB …