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
收藏
页码：1099 / 1104
页数：5
相关论文
共 21 条
  • [11] Smith L., Singhal N., El Achkar C.M., PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum, Epilepsia, 59, 3, pp. 679-689, (2018)
  • [12] Specchio N., Marini C., Terracciano A., Et al., Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations, Epilepsia, 52, 7, pp. 1251-1257, (2011)
  • [13] Mukhin K.Y., Pylaeva O.A., Dolinina A.F., Et al., Epilepsy induced by a mutation in the PCDH19 gene: Literature review and our own observations, Russ. Zh. Detsk. Nevrol., 11, 2, pp. 26-32, (2016)
  • [14] Chugani H., Neuroimaging in Epilepsy, (2010)
  • [15] Dibbens L.M., Tarpey P.S., Hynes K., Et al., X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment, Nat. Genet., 40, 6, pp. 776-781, (2008)
  • [16] Depienne C., Bouteiller D., Keren B., Et al., Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females, Plos Genetics, 5, 2, (2009)
  • [17] Liu A., Xu X., Yang X., Et al., The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population, Clin. Genet., 91, 1, pp. 54-62, (2017)
  • [18] Liu A., Yang X., Yang X., Et al., Mosaicism and incomplete penetrance of PCDH19 mutations, J. Med. Genet., 56, 2, pp. 81-88, (2019)
  • [19] Yoshida K., Sugano S., Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3, Genomics, 2, 3, pp. 540-543, (1999)
  • [20] Terracciano A., Trivisano M., Cusmai R., Et al., PCDH19-related epilepsy in two mosaic male patients, Epilepsia, 57, 51-55, (2016)
123