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A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ

Year: 2018

Type: article

Abstract: Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis, and second messenger signaling the nervous system. Of the nine known calcium-independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patient with PNPLA8 are associated with mitochondrial-related neurodegeneration. Using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.38687

Authors: Anju Shukla, Russell P. Saneto, Malavika Hebbar, Ghayda Mirzaa, Katta M. Girisha

Institutions: Manipal Academy of Higher Education, Kasturba Medical College, Manipal, Seattle Children's Hospital, Seattle Children's Research Institute, University of Washington

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Department of Health Research, India, National Institute of Neurological Disorders and Stroke