Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
T. V. Markova,
A. O. Borovikov,
E. R. Lozier,
A. A. Isaev,
V. S. Kaimonov,
E. A. Pomerantseva,
F. A. Konovalov,
O. A. Schagina,
E. L. Dadali https://doi.org/10.17650/2222-8721-2020-10-1-88-92
Abstract
Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygous variant of the nucleotide sequence was found in all known patients, but the severity of seizures and dysmorphic signs significantly vary between patients. The current study of a recurrent pathogenic variant in PACS2 gene expands the phenotype spectrum of early epileptic encephalopathy-66 and will improve the management of patients with that disorder in Russia in the future.
About the Authors
T. V. Markova
Research Center of Medical Genetics named after academician N. P. Bochkov
Russian Federation
1 Moskvorech’e St., Moscow 115478, Russia
Russian Federation
1 Moskvorech’e St., Moscow 115478, Russia
A. O. Borovikov
Research Center of Medical Genetics named after academician N. P. Bochkov
Russian Federation
1 Moskvorech’e St., Moscow 115478, Russia
Russian Federation
1 Moskvorech’e St., Moscow 115478, Russia
E. R. Lozier
Independent Clinical Bioinformatics Laboratory
Russian Federation
Build. 1, 21 Katukova St., Moscow 123181, Russia
Russian Federation
Build. 1, 21 Katukova St., Moscow 123181, Russia
A. A. Isaev
Center for Genetics and Reproductive Medicine “Genetico”
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
V. S. Kaimonov
Center for Genetics and Reproductive Medicine “Genetico”
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
E. A. Pomerantseva
Center for Genetics and Reproductive Medicine “Genetico”
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
Russian Federation
Build. 1, 3 Gubkina St., Moscow 119333, Russia
F. A. Konovalov
Independent Clinical Bioinformatics Laboratory
Russian Federation
Build. 1, 21 Katukova St., Moscow 123181, Russia
Russian Federation
Build. 1, 21 Katukova St., Moscow 123181, Russia
O. A. Schagina
Research Center of Medical Genetics named after academician N. P. Bochkov
Russian Federation
Moskvorech’e St., Moscow 115478, Russia
Russian Federation
Moskvorech’e St., Moscow 115478, Russia
E. L. Dadali
Research Center of Medical Genetics named after academician N. P. Bochkov
Russian Federation
Moskvorech’e St., Moscow 115478, Russia
Russian Federation
Moskvorech’e St., Moscow 115478, Russia
References
1. Trump N., McTague A., Brittain H. et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet 2016;53(5):310–7. DOI: 10.1136/jmedgenet-2015-103263. PMID: 26993267.
2. Thevenon J., Duffourd Y., Masurel-Paulet A. et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet 2016;89(6): 700–7. DOI: 10.1111/cge.12732. PMID: 26757139.
3. Olson H.E., Jean-Marcais N., Yang E. et al. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. Am J Hum Genet 2018;103(4):631. DOI: 10.1016/j.ajhg.2018.09.002. PMID: 30290155.
4. Simmen T., Aslan J.E., Blagoveshchenskaya A.D. et al. PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis. EMBO J 2005;24(4):717–29. DOI: 10.1038/sj.emboj.7600559. PMID: 15692567.
5. Youker R.T., Shinde U., Day R. et al. At the crossroads of homoeostasis and disease: roles of the PACS proteins in membrane traffic and apoptosis. Biochem J 2009;421:1–15. DOI: 10.1042/Bj20081016. PMID: 19505291.
6. Perucca P., Perucca E. Identifying mutations in epilepsy genes: Impact on treatment selection. Epilepsy Res 2019;152:18–30. DOI: 10.1016/j.eplepsyres.2019.03.001. PMID: 30870728.
7. Dentici M.L., Barresi S., Niceta M. et al. Expanding the clinical spectrum associated with PACS2 mutations. Clin Genet 2019;95(4):525–31. DOI: 10.1111/cge.13516. PMID: 30684285.
8. Zollino M., Seminara L., Orteschi D. et al. The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A 2009;149A(6):1116–24. DOI: 10.1002/ajmg.a.32831. PMID: 19441122.
9. Holder J.L.Jr., Lotze T.E., Bacino C., Cheung S.W. A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A 2012;158A(8):1962–6. DOI: 10.1002/ajmg.a.35289. PMID: 22488736.
10. Helbig I., Lopez-Hernandez T., Shor O. et al. A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy. Am J Hum Genet 2019;104(6):1060–72. DOI: 10.1016/j.ajhg.2019.04.001. PMID: 31104773.
Review
For citations:
Markova T.V., Borovikov A.O., Lozier E.R., Isaev A.A., Kaimonov V.S., Pomerantseva E.A., Konovalov F.A., Schagina O.A., Dadali E.L. Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation). Neuromuscular Diseases. 2020;10(1):88-92. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-1-88-92
Views:
849
Email this article 