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Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4. Epub 2018 Nov 3.

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

Author information

1
Research Centre for Medical Genetics Moskvorechie 1, Moscow, Russia, 115522. psparber93@gmail.com.
2
Research Centre for Medical Genetics Moskvorechie 1, Moscow, Russia, 115522.
3
School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.

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:

C19orf12; Functional analysis; Iron accumulation; MPAN; NBIA; Neurodegeneration; Splicing

PMID:
30392167
DOI:
10.1007/s10048-018-0558-4
[Indexed for MEDLINE]

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