ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutieres syndrome.

ABSTRACT: A recurrent 68-kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or neonatal onset and rapidly fatal course with cardiomyopathy, hyperlactataemia, cataract, and encephalopathy. We analysed the clinical, neuroimaging, and molecular spectrum associated with duplication of the ATAD3 gene cluster in nine patients (four males, five females; age range: 3 days-3 years, median: 11 days, mean: 7.8 months, SD: 1 year 1 month). Five patients presented with prenatal signs (intrauterine growth restriction in four of nine and cardiac abnormalities in three of nine) leading to medical termination of pregnancy in one case. All live-born children presented with neonatal hypotonia, frequently associated with cardiomyopathy (five of eight

SUBMITTER: Plante-Bordeneuve P 

PROVIDER: S-EPMC12766552 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature