Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088)

被引：0

作者：

Dadali E.L. ^{[1
,2
]}

Mishina I.A. ^{[1
]}

Borovikov A.O. ^{[1
]}

Sharkov A.A. ^{[2
]}

Kanivets I.V. ^{[3
]}

机构：

[1] Bochkov Medical Genetic Science Center, Moscow

[2] Pirogov Russian National Research Medical University, Russian Ministry of Health, Moscow

[3] Genomed, Moscow

来源：

Neuroscience and Behavioral Physiology | 2020年 / 50卷 / 9期

关键词：

convulsions; developmental delay; early epileptic encephalopathy; PCDH19;

D O I：

10.1007/s11055-020-01011-z

中图分类号：

学科分类号：

摘要：

Objectives: to analyze the clinical genetic characteristics of PCDH19-associated epilepsy in a cohort of patients from the population of the Russian Federation. Materials and methods. The cohort of patients with early epileptic encephalopathy consisted of 16 patients aged from 10 months to 30 years. All patients underwent neurological examination by standard methods, exome sequencing, and electroencephalogram monitoring. Results. Most of the mutations detected were frameshift mutations or mutations forming a stop codon. Six were duplications and four were deletions of a single nucleotide, while three were nonsense mutations. Polymorphism in the clinical manifestations of convulsions were found, which were independent of the type of mutation and its location, which is consistent with results reported by other authors. Conclusions. This study of the clinical genetic features of our patients leads to the conclusion that the PCDH19 gene has so-called hot spots, which are mutated more frequently than other parts of the gene, and that the clinical picture of epileptic encephalopathy type 9, induced by mutations in the PCDH19 gene, is variable. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.

引用

页码：1099 / 1104

页数：5

共 21 条

[1] Gursoy S., Ercal D., Diagnostic approach to genetic causes of early-onset epileptic encephalopathy, J. Child Neurol., 31, 4, pp. 523-532, (2016)
[2] Veeramah K.R., Johnstone L., Karafet T.M., Et al., Exome sequencing reveals new causal mutations in children with epileptic encephalopathies, Epilepsia, 54, 7, pp. 1270-1281, (2013)
[3] Thomas R.H., Berkovic S.F., The hidden genetics of epilepsy – a clinically important new paradigm, Nat. Rev. Neurol., 10, 5, pp. 283-292, (2014)
[4] Engel J., And the International League Against Epilepsy (ILAE), “A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology, Epilepsia, 42, 6, pp. 796-803, (2001)
[5] Juberg R.C., Hellman C.D., A new familial form of convulsive disorder and mental retardation limited to females, J. Pediatr., 79, 5, pp. 726-732, (1971)
[6] Fabisiak K., Erickson R.P., A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms, Clin. Genet., 38, 5, pp. 353-358, (1990)
[7] Wolverton T., Lalande M., Identification and characterization of three members of a novel subclass of protocadherins, Genomics, 76, 1-3, pp. 66-72, (2001)
[8] Morishita H., Yagi T., Protocadherin family: diversity, structure, and function, Curr. Opin. Cell Biol., 19, 5, pp. 584-592, (2007)
[9] Patel S.D., Chen C.P., Bahna F., Et al., Cadherin-mediated cell-cell adhesion: sticking together as a family, Curr. Opin. Struct. Biol., 13, 6, pp. 690-698, (2003)
[10] Depienne C., Leguern E., PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder, Hum. Mutat., 33, 4, pp. 627-634, (2012)

← 1 2 3 →