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neurogenetics

, Volume 19, Issue 4, pp 257–260 | Cite as

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

  • Peter Sparber
  • Andrey Marakhonov
  • Alexandra Filatova
  • Inna Sharkova
  • Mikhail Skoblov
Short Communication

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.

Keywords

MPAN NBIA C19orf12 Neurodegeneration Iron accumulation Functional analysis Splicing 

Notes

Compliance with ethical standards

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Research Centre for Medical Genetics Moskvorechie 1MoscowRussia
  2. 2.School of BiomedicineFar Eastern Federal UniversityVladivostokRussia

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