Recurrent mutation in the HMGCL gene in a family segregating HMG-CoA lyase deficiency

Abstract

Arg41Gln). This is the most frequent mutation found in the HMGCL gene in Saudi population and might have occurred due to a founder effect. Multiple in silico software predicted this mutation as disease-causing. Moreover, to determine the protein stability upon change in amino acid various tools including SDM, I-Mutant, mCSM and DUET were used and found that the mutation, identified in this family, is protein destabilizing. An extensive literature review was performed and all mutations reported to date in the HMGCL gene were identified and listed.