Two novelPCDH19mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

被引:3
作者
Kozina, Anastasiya Aleksandrovna [1 ,2 ]
Okuneva, Elena Grigorievna [3 ]
Baryshnikova, Natalia Vladimirovna [2 ,3 ]
Fedonyuk, Inessa Dmitrievna [4 ]
Kholin, Alexey Aleksandrovich [2 ,4 ]
Il'ina, Elena Stepanovna [4 ]
Krasnenko, Anna Yurievna [3 ]
Stetsenko, Ivan Fedorovich [3 ]
Plotnikov, Nikolay Alekseevich [3 ]
Klimchuk, Olesia Igorevna [3 ]
Surkova, Ekaterina Ivanovna [3 ]
Ilinsky, Valery Vladimirovich [1 ,2 ,3 ,5 ]
机构
[1] Inst Biomed Chem, Pogodinskaya St 10-8, Moscow 119121, Russia
[2] Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia
[3] Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia
[4] Pirogov Russian Natl Res Med Univ, Russian Childrens Clin Hosp, Leniskiy Prospekt 117, Moscow 117513, Russia
[5] Vavilov Inst Gen Genet, Gubkina St 3, Moscow 119333, Russia
关键词
Epilepsy with intellectual disability limited to females; EIEE9; PCDH19; Protocadherin; 19; Case report; PCDH19; MUTATIONS; PCDH19-RELATED EPILEPSY; ENCEPHALOPATHY; PROTOCADHERIN-19; SPECTRUM; GENE;
D O I
10.1186/s12881-020-01119-6
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 novelPCDH19mutations 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 ofPCDH19mutations, but on the X-inactivation status. The study also highlights the need to screen for EIEE9 among young female epilepsy patients.
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