Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.

Autor: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Fedonyuk ID; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Kholin AA; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Il'ina ES; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Krasnenko AY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Stetsenko IF; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Plotnikov NA; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Surkova EI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.
Jazyk: angličtina
Zdroj: BMC medical genetics [BMC Med Genet] 2020 Oct 21; Vol. 21 (1), pp. 209. Date of Electronic Publication: 2020 Oct 21.
DOI: 10.1186/s12881-020-01119-6
Abstrakt: Background: Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not.
Case Presentation: We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years and 7 years). In these patients seizures developed at the age of 3 years. Additionally, for our patients and for cases described in the literature we searched for a possible relationship between the type and localization of the mutation and the EIEE9 clinical phenotype.
Conclusions: We identified two novel PCDH19 mutations in EIEE9 patients: a missense mutation in exon 1 (c.1236C > A, p.Asp412Glu) and a frameshift in exon 3 (c.2386_2387insGTCT, p.Thr796fs). We conclude that the age of seizure onset and the presence of intellectual disability may depend not on the type and localization of PCDH19 mutations, but on the X-inactivation status. The study also highlights the need to screen for EIEE9 among young female epilepsy patients.
Databáze: MEDLINE
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