Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.

摘要: BACKGROUND 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid-derived energy for various organs during times carbohydrate deprivation, such as fasting. Mutations in this are responsible HMG-CoA deficiency (HMGCSD). The aim present study was to investigate association mutation HMGCS2 with HMGCSD patient atypical symptoms. METHODS clinical and genetic features an 8-months-old girl were evaluated. Molecular testing conducted using whole-exome sequencing (WES) order identify potential disease-causing mutation. WES finding confirmed by polymerase chain (PCR) amplification target sequence carried out her parents. PCR products subjected direct forward reverse specific primers corresponding gene. RESULTS A novel homozygous missense (c.266G>A p.Gly89Asp) detected Sanger along co-segregation analysis all family members pathogenic germline mutant found be bioinformatics analysis. CONCLUSION To our best knowledge, is report Iran would expand knowledge about mutational spectrum phenotype variations disease.