%0 Case Reports
%T Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.
%A Masih S
%A Moirangthem A
%A Phadke SR
%J Mol Syndromol
%V 12
%N 3
%D Jun 2021
%M 34177434
%F 1.494
%R 10.1159/000513524
%X 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.