Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration-Reference-Cited by-同舟云学术

Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

Published:2021 Issue:3 Volume:12 Page:174-178
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Masih Suzena,Moirangthem Amita,Phadke Shubha R.

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.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

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