A Rare Case of KCTD7 Mutation
DOI:
https://doi.org/10.61788/njn.v1i21.09Keywords:
progressive myoclonic epilepsies, KCTD7, seizures, genetic testingAbstract
Progressive myoclonus epilepsy (PME) is a rare condition caused by numerous genetic diseases. Pathogenic variants in KCTD7 have been reported in association with rare form of infantile neuronal ceroid-lipofuscinosis, autosomal recessive progressive myoclonic epilepsy-3 with or without intracellular inclusions. We report about a 4 years old girl with focal epilepsy, mild intellectual disability, developmental delay, muscle weakness, walking difficulties, dysphagia, nystagmus, episodic ataxia, dystonia, and hypotonia. The first symptoms began at 18 months with focal epileptic seizure. Genetic testing reveals homozygous KCTD7 c.295C>T, p.(Arg99*) mutation.
References
Kälviäinen R. Progressive myoclonus epilepsies // Semin. Neurol. 35 (2015) 293-299.
Van Bogaert P, Azizieh R, Desir J, et al. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy // Ann Neurol 2007;61:579-86.
Mei L, Huang Y, Chen J, et al. Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressive myoclonus epilepsy // Clin Chim Acta 2019;493:87-91.
Mastrangelo M, Sartori S, Simonati A, et al. Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders // Eur J Med Genet 2018(Nov). 27.
Mencacci NE, Rubio-Agusti I, Zdebik A, et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia // Am J Hum Genet 2015;96:938-47.
Kousi M., Anttila V., Schulz A., Calafato S., et al. Novel mutations consolidate KCTD7as a progressive myoclonus epilepsy gene // Journal of Medical Genetics, 2012;49(6),391-399. doi:10.1136/jmedgenet-2012-100859
Farhan S.M., Murphy L.M., Robinson J.F., et al. Linkage analysis and exome sequencing identify a novel mu-tation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia // Epilepsia 2014;55;106-111.
Krabichler B., Rostasy K., Baumann M., et al. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy // Ann. Hum. Genet. 2012;76;326-331.
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