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

被引：0
作者：
Peter Sparber
Andrey Marakhonov
Alexandra Filatova
Inna Sharkova
Mikhail Skoblov
机构：
[1] Research Centre for Medical Genetics Moskvorechie 1,School of Biomedicine
[2] Far Eastern Federal University,undefined
来源：
neurogenetics | 2018年 / 19卷
关键词：
MPAN; NBIA; C19orf12; Neurodegeneration; Iron accumulation; Functional analysis; Splicing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：257 / 260
页数：3
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