Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

• Published in: American journal of human genetics Vol. 102; no. 3; pp. 494 - 504
• Main Authors: Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2018; Elsevier
• Subjects: 3-methylglutaric aciduria; Alleles; Amino Acid Sequence; ATP synthase; Base Sequence; Child; Child, Preschool; complex V; exome sequencing; Female; fibroblast; Humans; hyperammonemia; Infant; Infant, Newborn; lactic acidosis; Loss of Function Mutation - genetics; Male; Metabolic Diseases - genetics; Mitochondria - metabolism; Mitochondria - ultrastructure; mitochondrial disease; Mitochondrial Proton-Translocating ATPases - chemistry; Mitochondrial Proton-Translocating ATPases - genetics; model organism; Mutation - genetics; oxidative phosphorylation; Protein Subunits - chemistry; Protein Subunits - genetics; ATP synthase; exome sequencing; fibroblast; model organism; complex V; lactic acidosis; hyperammonemia; mitochondrial disease; oxidative phosphorylation; 3-methylglutaric aciduria

ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1...