A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

作者：Grazia Iannello; Claudio Graziano; Giovanna Cenacchi; Maria Cordelli Duccio; Roberta Zuntini; Valentina Papa; Maria Magista Anna; Monica Gagliardi; Radha Procopio; Aldo Quattrone; Grazia Annesi

来源：Journal of the Neurological Sciences, 2017, 381: 209-212.

DOI：10.1016/j.jns.2017.08.3260

• Infantile neuroaxonal dystrophy
• PLA2G6
• Axonal degeneration
• mRNA nonsense-mediated decay

Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI) critical in cell membrane homeostasis.
PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14).
INAD is a severe progressive psychomotor disorder characterized by the presence of axonal spheroids throughout the central and peripheral nervous system. Here we report clinical, genetic and histopathological findings of an INAD consanguineous-family from Senegal. Sanger sequencing analysis revealed a new homozygous PLA2G6-mutation in the proband (c.1483C > T) and the co-segregation of the mutation in this family.
Electron microscopy on skin biopsy showed degenerated axons confirming the phenotype.
This study contributes to enrich the landscape of PLA2G6-associated INAD mutations and enforce the genotype -phenotype correlation.

• 出版日期2017-10-15