Background Action myoclonus-renal failure syndrome （AMRF）， a type of progressive myoclonus epilepsy （PME）， is an autosomal recessive disorder associated with SCARB2 gene mutation.Objective To report a family with AMRF caused by SCARB2 gene mutation， to summarize the clinical phenotype and genetic characteristics of AMRF patients reported in literature， and to improve the awareness of this disease.Methods A retrospective analysis was performed for the clinical data of a patient with AMRF， and whole-exome targeted gene next-generation sequencing （NGS） was used to perform genetic testing of one patient in the family with AMRF. The data of 28 AMRF cases （including this case） were summarized and analyzed with reference to literature reports.Results The main clinical features of AMRF patients included action myoclonus， generalized tonic-clonic seizures， ataxia， and absence of cognitive impairment， with or without renal dysfunction. The proband carried a homozygous frameshift mutation （c.350_351delAT， p.Y117Cfs*3， NM_005506.3） in the SCARB2 gene， while the unaffected mother and sister carried a single heterozygous mutation at this site. A total of 22 mutation sites of the SCARB2 gene were reported for 28 patients （including this case） in the world， and with the presence of autosomal recessive inheritance in all patients.Conclusions This study reports a novel frameshift homozygous mutation in the SCARB2 gene identified in patients with AMRF associated with SCARB2 gene mutation. With reference to literature review， it is speculated that when a mutation site is located near the 5’-terminal and in a more important functional domain， it may have a greater impact on the function of protein product.