COQ7 defect causes prenatal onset of mitochondrial CoQ₁₀ deficiency with cardiomyopathy and gastrointestinal obstruction.

ABSTRACT: COQ7 pathogenetic variants cause primary CoQ₁₀ deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ₁₀ supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth r

SUBMITTER: Pettenuzzo I 

PROVIDER: S-EPMC11291740 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature