ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Am J Med Genet A
; 167(6): 1391-5, 2015 Jun.
Article
em En
| MEDLINE
| ID: mdl-25847581
ABSTRACT
Elongator is a multi-subunit protein complex essential to transcription elongation, histone acetylation, and tRNA modification. The complex consists of six highly conserved protein subunits, called Elongator Proteins (ELP) 1-6. Apart from an association with intellectual disability (ID), there is limited clinical information about patients with ELP2 variants. Here we report on two brothers with severe ID, spastic diplegia, and self-injury whose presentation eluded a diagnosis for over 20 years. In both brothers, whole exome sequencing revealed a likely pathogenic, compound heterozygous missense variant in ELP2. We describe the phenotype and natural history of the ELP2-related disorder in these brothers.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia Cerebral
/
Comportamento Autodestrutivo
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Mutação de Sentido Incorreto
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Peptídeos e Proteínas de Sinalização Intracelular
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Exoma
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2015
Tipo de documento:
Article