Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report.

ABSTRACT:

Rationale

Polymerase subunit gamma (POLG) is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, which is involved in the replication of mitochondrial DNA. Mutations in these genes are associated with a range of clinical syndromes characterized by secondary mtDNA defect including mtDNA mutation and mtDNA depletion which may culminate in complete failure of energy production (respiratory changes complex 1 defect) as in this case.

Patient concerns

We herein report a full term Saudi female neonate born to consanguineous parents, who was noticed immediately after birth to have severe hypotonia, poor respiratory effort, and dysmorphic features. She had 3 siblings who died with same clinical scenario in neonatal period.

Diagnoses

Molecular genet

SUBMITTER: AlJabri MF 

PROVIDER: S-EPMC6200512 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature