Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing |
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Authors: | Peter Sparber Andrey Marakhonov Alexandra Filatova Inna Sharkova Mikhail Skoblov |
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Institution: | 1.Research Centre for Medical Genetics Moskvorechie 1,Moscow,Russia;2.School of Biomedicine,Far Eastern Federal University,Vladivostok,Russia |
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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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