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01-12-2018 | Short Communication

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

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

Published in: Neurogenetics | Issue 4/2018

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.

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Title: Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing
Authors: Peter Sparber
Andrey Marakhonov
Alexandra Filatova
Inna Sharkova
Mikhail Skoblov
Publication date: 01-12-2018
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 4/2018
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-018-0558-4

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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