Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

doi:10.1016/j.ajhg.2016.08.007

Article

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

American journal of human genetics - 6 Oct 2016

Harel Tamar, Yoon Wan Hee, Garone Caterina, Gu Shen, Coban-Akdemir Zeynep, Eldomery Mohammad K, Posey Jennifer E, Jhangiani Shalini N, Rosenfeld Jill A, Cho Megan T, Fox Stephanie, Withers Marjorie, Brooks Stephanie M, Chiang Theodore, Duraine Lita, Erdin Serkan, Yuan Bo, Shao Yunru, Moussallem Elie, Lamperti Costanza, Donati Maria A, Smith Joshua D, McLaughlin Heather M, Eng Christine M, Walkiewicz Magdalena, Xia Fan, Pippucci Tommaso, Magini Pamela, Seri Marco, Zeviani Massimo, Hirano Michio, Hunter Jill V, Srour Myriam, Zanigni Stefano, Lewis Richard Alan, Muzny Donna M, Lotze Timothy E, Boerwinkle Eric, Gibbs Richard A, Hickey Scott E, Graham Brett H, Yang Yaping, Buhas Daniela, Martin Donna M, Potocki Lorraine, Graziano Claudio, Bellen Hugo J, Lupski James R

Abstract excerpt

ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental...

Topics

ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases
Adult
Alleles
Animals

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

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