A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ

Anju Shukla, Russell P. Saneto, Malavika Hebbar, Ghayda Mirzaa, Katta M. Girisha

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis, and second messenger signaling the nervous system. Of the nine known calcium-independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patient with PNPLA8 are associated with mitochondrial-related neurodegeneration. Using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8.

Original languageEnglish
Pages (from-to)1232-1237
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number5
DOIs
Publication statusPublished - 01-05-2018

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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