PMC9623027_01
Homozygous mutations most likely cause a frameshift in SMARCAL1. (A) Pedigree for studied individuals, including the germline mutation (NM_014140.3, c.1921dup). Circles and squares indicate females and males, respectively. (B) Wild type and predicted SMARCAL1 proteins.
fimmu-13-979722-g001.jpg
PMC9623027_01_fimmu-13-979722-g001.jpg
f1
Genetic testing identified a homozygous mutation (c.1921dup) in SMARCAL1, a diagnostic of SIOD ( Figure 1A ). The insertion causes a frameshift and a missense sequence of around 50 amino acids within the region that codifies for the Helicase ATP-dependent region (Mutation Taster prediction), and the loss of the Helicase C-terminal region ( Figure 1B ).