{Reference Type}: Journal Article
{Title}: Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
{Author}: Cavestro C;Panteghini C;Reale C;Nasca A;Fenu S;Salsano E;Chiapparini L;Garavaglia B;Pareyson D;Di Meo I;Tiranti V;
{Journal}: Neurogenetics
{Volume}: 22
{Issue}: 4
{Year}: 10 2021
{Factor}: 3.017
{DOI}: 10.1007/s10048-021-00667-0
{Abstract}: PLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.