Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
Am J Med Genet A
; 176(5): 1049-1054, 2018 05.
Article
em En
| MEDLINE
| ID: mdl-29681108
ABSTRACT
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
RNA Mensageiro
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Íntrons
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Proteínas de Transporte
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Splicing de RNA
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Distrofias Neuroaxonais
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Predisposição Genética para Doença
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article