Article
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
American journal of human genetics - 6 Feb 2020
Gunning Adam C, Strucinska Klaudia, Muñoz Oreja Mikel, Parrish Andrew, Caswell Richard, Stals Karen L, Durigon Romina, Durlacher-Betzer Karina, Cunningham Mitchell H, Grochowski Christopher M, Baptista Julia, Tysoe Carolyn, Baple Emma, Lahiri Nayana, Homfray Tessa, Scurr Ingrid, Armstrong Catherine, Dean John, Fernandez Pelayo Uxoa, Jones Aleck W E, Taylor Robert W, Misra Vinod K, Yoon Wan Hee, Wright Caroline F, Lupski James R, Spinazzola Antonella, Harel Tamar, Holt Ian J, Ellard Sian
Abstract excerpt
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic...
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