A novel de novo frameshift variant in SETD1B causes epilepsy.
J Hum Genet
; 64(8): 821-827, 2019 Aug.
Article
em En
| MEDLINE
| ID: mdl-31110234
ABSTRACT
We identified a de novo frameshift variant (NM_015048.1c.5644_5647delp.(Ile1882Serfs*118)) in the last exon of SETD1B in a Japanese patient with autistic behavior, developmental delay, intellectual disability, and myoclonic seizures. This variant is predicted to disrupt a well-conserved carboxyl-terminus SET domain, which is known to modulate gene activities and/or chromatin structure. Previously, two de novo missense mutations in SETD1B were reported in two patients with epilepsy. All three patients including the current patient share similar clinical features. Herein, we report a first epilepsy patient with a frameshift variant in SETD1B, emphasizing a possible pathomechanistic association of SETD1B abnormality with neurodevelopmental delay with epilepsy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação da Fase de Leitura
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Histona-Lisina N-Metiltransferase
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Predisposição Genética para Doença
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Epilepsia
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Estudos de Associação Genética
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article