A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy

Abstract Background Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression. The disease is attributed to mutations in KCTD7 (a member of the potassium channel tetramerization domain). Case presentation We report the case of a 6-year-old girl with compound heterozygous mutation in KCTD7 . Whole-exome sequencing was carried out to detect the mutations followed by Sanger sequencing of the patient in addition to the unaffected parents which confirmed the diagnosis. The first mutation [c. 202A > G (p.Thr68Ala)] was inherited from mother and the second one [c. 458G > A (p.Arg153His)] was inherited from father. Conclusions To our knowledge, this is the first report of compound heterozygous KCTD7 -related progressive myoclonic epilepsy in Iran with c.202A > G in particular as a novel mutation. Our findings widen the scope of our knowledge of the underlying genetic etiology of the aforementioned disease which can further help us in the genetic diagnosis of these patients.