HERC1 mutations in idiopathic intellectual disability.
Eur J Med Genet
; 60(5): 279-283, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-28323226
ABSTRACT
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition. Kyphoscoliosis and seizures frequently accompany and autistic features might be another feature as recent studies also implicate. HERC1 mutations should be considered in differential diagnosis of severe intellectual disability and behavioural problems, particularly in patients testing negative for fragile X and KANSL1 mutations.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Troca do Nucleotídeo Guanina
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Deficiência Intelectual
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Mutação
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article