Unknown

Dataset Information

0

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 |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC1940239 | biostudies-literature
| S-EPMC4495259 | biostudies-literature
| S-EPMC5876123 | biostudies-literature
| S-EPMC7684928 | biostudies-literature
| S-SCDT-EMBOJ-2019-103358 | biostudies-other
| S-EPMC4666578 | biostudies-literature
| S-EPMC4214529 | biostudies-literature
| S-EPMC6276871 | biostudies-literature
| S-EPMC7196918 | biostudies-literature
| S-EPMC5965403 | biostudies-literature