Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism - 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; et al. (American journal of human genetics, 2020)
Keywords: Amino Acid Sequence; ATAD3; ATAD3 gene cluster; ATPases Associated with Diverse Cellular Activities - chemistry; ATPases Associated with Diverse Cellular Activities - genetics; Brain Diseases - etiology; Brain Diseases - metabolism; Brain Diseases - pathology; Cardiomyopathies - etiology; Cardiomyopathies - metabolism; Cardiomyopathies - pathology; cardiomyopathy; cholesterol; Cholesterol - metabolism; Corneal Opacity - etiology; Corneal Opacity - metabolism; Corneal Opacity - pathology; DNA Copy Number Variations; Female; Gene Duplication; Gene Rearrangement; Harel-Yoon; Homologous Recombination; Humans; Infant; Infant, Newborn; Male; Membrane Proteins - chemistry; Membrane Proteins - genetics; metabolic disorder; Mitochondria - genetics; Mitochondria - metabolism; Mitochondria - pathology; Mitochondrial Diseases - genetics; Mitochondrial Diseases - metabolism; Mitochondrial Diseases - pathology; mitochondrial DNA; Mitochondrial Proteins - chemistry; Mitochondrial Proteins - genetics; Muscle Hypotonia - etiology; Muscle Hypotonia - metabolism; Muscle Hypotonia - pathology; Mutation; NAHR; non-allelic homologous recombination; Protein Conformation; Seizures - etiology; Seizures - metabolism; Seizures - pathology; Sequence Homology; Harel-Yoon; non-allelic homologous recombination; mitochondrial DNA; ATAD3; metabolic disorder; cholesterol; ATAD3 gene cluster; NAHR; cardiomyopathy