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Of the nine known calcium\u2010independent phospholipase A2\u03b3, only <jats:italic>PNPLA2<\/jats:italic>, <jats:italic>PNLPA6<\/jats:italic>, <jats:italic>PNPLA9<\/jats:italic> and most recently a single patient with <jats:italic>PNPLA8<\/jats:italic> are associated with mitochondrial\u2010related 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\u2010of\u2010function variants in <jats:italic>PNPLA8<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.38687","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1232-1237","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A neurodegenerative mitochondrial disease phenotype due to biallelic loss\u2010of\u2010function variants in <i>PNPLA8<\/i> encoding calcium\u2010independent phospholipase 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