MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

ABSTRACT:

Background

Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease.

Methods

Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC), developmental delay (DD), seizures, and severe hypotonia. Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. Functional analysis of the identified MIP variants was performed using the model organism Saccharomyces cerevisiae as the protein and

SUBMITTER: Eldomery MK 

PROVIDER: S-EPMC5088683 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature