Similarly, a case of Renpenning syndrome has been reported in China, which was associated with the PQBP1(NM_001032381.2):c.28C>G (p.Arg10Gly) (Jeong et al., 2018; Germanaud et al., 2011; Pan et al., 2025). Here, PQBP1 is linked to Renpenning syndrome.