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

Peter Sparber1, Andrey Marakhonov2,3, Alexandra Filatova2

  • 1Research Centre for Medical Genetics Moskvorechie 1, Moscow, Russia, 115522. psparber93@gmail.com.

Neurogenetics
|November 5, 2018
PubMed

Insights

Neurodegeneration with brain iron accumulation type 4 (NBIA4), or MPAN, is a rare neurological disorder. Researchers identified a novel splicing variant in the C19orf12 gene, confirming its role in NBIA4 pathogenesis.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Neurodegeneration with brain iron accumulation type 4 (NBIA4), also known as mitochondria protein-associated neurodegeneration (MPAN), is a rare genetic disorder characterized by iron buildup in the brain.
  • Iron accumulation typically affects the globus pallidus and substantia nigra, leading to progressive neurological decline.

Observation:

  • Whole exome sequencing (WES) was performed on a 12-year-old patient diagnosed with NBIA4.
  • The analysis identified two variants in the C19orf12 gene: a known deletion and a novel splicing variant (c.193+5G>A).

Findings:

  • Functional analysis of the novel c.193+5G>A splicing variant demonstrated exon skipping.
  • This resulted in the production of a truncated and nonfunctional C19orf12 protein.
  • This represents the first functionally validated pathogenic splicing variant associated with NBIA4.

Implications:

  • The identification of this novel splicing variant expands the mutational spectrum for NBIA4.
  • This finding aids in understanding the molecular mechanisms underlying MPAN.
  • It provides a basis for improved genetic diagnosis and potential therapeutic strategies for NBIA4 patients.
Keywords:
C19orf12Functional analysisIron accumulationMPANNBIANeurodegenerationSplicing

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