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Rapid Communication | Open Access

A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes

Chao Shena,1, Kitty Wanga,1, Wei Lia, Alvaro Serranob, Kelly Powersc, Chengwan Zhanga, Jianjun Chena( ), Miao Sund( )
Department of Systems Biology, Beckman Research Institute of City of Hope, Monrovia, CA 91016, USA
Division of Medical Genetics, Department of Pediatrics, Children’s Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Division of Neurology, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA
Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 10 Issue 4,
July 2023
Pages 1165-1168
DOI: 10.1016/j.gendis.2022.09.011

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Cite this article:
Shen C, Wang K, Li W, et al. A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes. Genes & Diseases, 2023, 10(4): 1165-1168. https://doi.org/10.1016/j.gendis.2022.09.011

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Received: 02 June 2022
Published: 06 October 2022
© 2022 The Authors.

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).