Shukla, Anju and Hebbar, Malavika and Girisha, KM (2018) A neurodegenerative Mitochondrial Disease Phenotype due to Biallelic loss-of-function variants in PNPLA8 encoding Alciumindependent Phospholipase A2Ƴ. American Journal of Medical Genetics- Part A, 176 (5). pp. 1232-1237. ISSN 1552-4825

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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 A2g, 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.

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