Homozygous Missense Variation in < b > < i > PNPLA8 < /i > < /b > Causes Prenatal-Onset Severe Neurodegeneration

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 ofPNPLA2,PNPLA6, andPNPLA9 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#x3e;G in the patatin domain ofPNPLA8. The patient had prenatal-onset severe and progressive neurodegeneration with mortality in infancy.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research