A novel polyribonucleotide nucleotidyltransferase 1 (<i>PNPT1</i>) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.

ABSTRACT:

Background

Combined oxidative phosphorylation deficiency 13 (COXPD13) results from mutations in the mitochondrial polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene. However, none of COXPD13 is reported in China. This study presents the clinical and molecular genetic features of an infant of Chinese descent identified with a novel PNPT1 mutation, which may be associated with COXPD13.

Case description

Here, we presented a case of a Chinese boy exhibiting multiple organ damage, white matter changes, epilepsy, abnormalities in muscle tone and strength, global developmental delay, growth retardation, and visual and auditory impairment. The patient also showed elevated lactate levels in the plasma. Furthermore, whole-exome sequencing (WES) revealed a homozygou

SUBMITTER: Li YY 

PROVIDER: S-EPMC11921403 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature