A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.

ABSTRACT:

Background

The mitochondria are a cellular power house. Tissues are involved in frequent energy consumption, and any failure or irregularity in the continuous energy production could lead to abnormalities. The leucine-rich pentatricopeptide repeat (LRPPRC) gene is one of the mitochondrial-related functions genes; variations in these genes are responsible for complex phenotypes that affect many organs such as the brain, liver, and muscles.

Materials and methods

This study enrolled a family with Leigh syndrome-like phenotype. The molecular diagnosis was conducted by first performing whole exome sequencing (WES), followed by Sanger sequencing.

Results

A novel splice-site variant (c.469 + 2T > A) at the exon-intron boundary in the LRPPRC gene was identified

SUBMITTER: Muthaffar OY 

PROVIDER: S-EPMC10690952 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature