Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-12

AUTHORS

Peter Sparber, Andrey Marakhonov, Alexandra Filatova, Inna Sharkova, Mikhail Skoblov

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. More... »

PAGES

1-4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-018-0558-4

DOI

http://dx.doi.org/10.1007/s10048-018-0558-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1108018258

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30392167


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