Report of two novel IVD gene variants in Iranian population

Introduction: Isovaleric acidemia (IVA) is a rare autosomal recessive disease, characterized by sweaty foot odor, lethargy, metabolic acidosis, and developmental delay. Mutations in IVD gene encoding isovaleryl-CoA dehydrogenase, cause IVA. In this study, two variants are reported in an Iranian patient.Materials & Methods: clinical examination was performed on the patient. DNA was extracted. The coding regions of IVD gene were amplified and sequenced. Segregation and bioinformatics analysis were performed on variants.Results: biochemical tests of urine on pattern of organic acids showed isovaleric acidemia. Two variants were found in the patient, c.802A> T (p.Met268Leu) and c.1147+6T> G. These mutations were heterozygous in the parents. MutationTaster predicted these variants as disease causing pathogenic effect of these variants.Conclusion & discussion: IVD gene mutations are reported for the first time in the Iranian population. Mutations of this gene may be common in Iranian population; although more patients are needed to study.

کلیدواژه ها:

IVA ، IVD ، Isovaleric acidemia ، variant