In:
neurogenetics, Springer Science and Business Media LLC, Vol. 22, No. 4 ( 2021-10), p. 347-351
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.
Type of Medium:
Online Resource
ISSN:
1364-6745
,
1364-6753
DOI:
10.1007/s10048-021-00667-0
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2021
detail.hit.zdb_id:
1475869-6
SSG:
12
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