Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
BMC Med Genet
; 21(1): 209, 2020 10 21.
Article
em En
| MEDLINE
| ID: mdl-33087045
ABSTRACT
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Caderinas
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Mutação da Fase de Leitura
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Mutação de Sentido Incorreto
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Doenças Genéticas Ligadas ao Cromossomo X
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Epilepsia
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Deficiência Intelectual
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article