MED23-associated intellectual disability in a non-consanguineous family.
Am J Med Genet A
; 167(6): 1374-80, 2015 Jun.
Article
em En
| MEDLINE
| ID: mdl-25845469
ABSTRACT
Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3 [3656A > G];[4006C > T], NP_057063.2 [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Mutação de Sentido Incorreto
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Complexo Mediador
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Cardiopatias Congênitas
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Child
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Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article