HSPG2 is an essential gene, and its mutations could lead to Schwartz-Jampel syndrome, type 1(SJS) and severe neonatal lethal Dyssegmental dysplasia, Silverman-Handmaker type (DDSH) (Arikawa-Hirasawa et al., 2002; Martinez et al., 2018). The gene discussed is HSPG2; the disease is Schwartz-Jampel syndrome.