Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.

ABSTRACT: The patatin-like protein family plays an important role in various biological functions including lipid homeostasis, cellular growth, and signaling. Conserved across species, the patatin domain is shared by all 9 members of the PNPLA family without redundancy in the coding sequences. The defective function of PNPLA2, PNPLA6, and PNPLA9 are known to cause mitochondrial-related neurodegeneration. Recently, PNPLA8 has been associated with mitochondrial myopathy and poor weight gain with lactic acidosis in 3 unrelated families. Using whole-exome sequencing, we identified a homozygous novel missense variation c.1874A>G in the patatin domain of PNPLA8. The patient had prenatal-onset severe and progressive neurodegeneration with mortality in infancy.

SUBMITTER: Masih S 

PROVIDER: S-EPMC8215966 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature