{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:19:20Z","timestamp":1781846360437,"version":"3.54.5"},"reference-count":52,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,4]],"date-time":"2021-03-04T00:00:00Z","timestamp":1614816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Leigh syndrome, the most common mitochondrial syndrome in pediatrics, has diverse clinical manifestations and is genetically heterogeneous. Pathogenic mutations in more than 75 genes of two genomes (mitochondrial and nuclear) have been identified. <jats:italic>PDHA1<\/jats:italic> encoding the E1 alpha subunit is an X\u2010chromosome gene whose mutations cause pyruvate dehydrogenase complex deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we have described a 12\u2010year\u2010old boy with lethal neuropathy who almost died of a sudden loss of breathing and successive\u00a0cardiac arrest. Extracorporeal membrane oxygenation rescued his life. His diagnosis was corrected from Guillain\u2013Barr\u00e9 syndrome to Leigh syndrome 1\u00a0month later by clinical exome sequencing. Furthermore, we used software to predict the protein structure caused by frameshift mutations. We treated the boy with vitamin B1, coenzyme Q10, and a ketogenic diet.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A <jats:italic>PDHA1<\/jats:italic> mutation (NM_000284.4:c.1167_1170del) was identified as the underlying cause. The amino acid mutation was p.Ser390LysfsTer33. Moreover, the protein structure prediction results suggested that the protein structure has changed. The parents of the child were negative, so the mutation was de novo. The comprehensive assessment of the mutation was pathogenic. His condition gradually improved after receiving treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case suggests that gene detection should be popularized to improve diagnosis accuracy, especially in developing countries such as China.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1651","type":"journal-article","created":{"date-parts":[[2021,3,4]],"date-time":"2021-03-04T14:17:45Z","timestamp":1614867465000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical exome sequencing reveals a mutation in <i>PDHA1<\/i> in Leigh syndrome: A case of a Chinese boy with lethal neuropathy"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0337-297X","authenticated-orcid":false,"given":"Ke","family":"Gong","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South University Central 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