Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.
Neurogenetics
; 19(4): 257-260, 2018 12.
Article
em En
| MEDLINE
| ID: mdl-30392167
ABSTRACT
Neurodegeneration with brain iron accumulation type 4 (NBIA4) also known as MPAN (mitochondria protein-associated neurodegeneration) is a rare neurological disorder which main feature is brain iron accumulation most frequently in the globus pallidus and substantia nigra. Whole exome sequencing (WES) in a 12-year-old patient revealed 2 variants in the C19orf12 gene, a previously reported common 11 bp deletion c.204_214del11, p.(Gly69Argfs*10) and a novel splicing variant c.193+5G>A. Functional analysis of novel variant showed skipping of the second exon, resulting in a formation of a truncated nonfunctional protein. This is the first functionally annotated pathogenic splicing variant in NBIA4.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Splicing de RNA
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Distrofias Neuroaxonais
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Distúrbios do Metabolismo do Ferro
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Proteínas Mitocondriais
Limite:
Child
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Female
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Humans
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article