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Research LetterIn-Press PreviewEndocrinologyGenetics
Open Access | 
10.1172/JCI198888
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia
Vinaya Simha,1 Mary Kate LoPiccolo,2 Anna Platt,3 Rebecca J. Brown,4 Xandria Johnson,5 Deanna Alexis Carere,6 Colleen Donnelly,2 Matthew T. Snyder,3 Chao Xing,5 Thomas P. Mathews,5 Purva Gopal,5 Stephen C. Ward,2 Diana R. Tomchick,5 Anil K. Agarwal,5 Ralph J. DeBerardinis,5 and Abhimanyu Garg5
1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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Xing, C.
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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1Mayo Clinic, Rochester, United States of America
2Icahn School of Medicine at Mount Sinai, New York, United States of America
3University of Virginia, Charlottesville, United States of America
4National Institutes of Health, Bethessa, United States of America
5UT Southwestern Medical Center, Dallas, United States of America
6GeneDx LLC, Gaithersburg, United States of America
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Published November 4, 2025 - More info
Copyright © 2025, Simha et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)