{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:42Z","timestamp":1753869702273,"version":"3.41.2"},"reference-count":44,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,24]],"date-time":"2021-03-24T00:00:00Z","timestamp":1616544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked hyper\u2010IgM (X\u2010HIGM), which results from mutations in the <jats:italic>CD40LG<\/jats:italic> gene located on chromosome Xq26.3, is the most common form of HIGM. To date, more than 130 variants of the CD40L gene have been reported. We described a patient with novel de novo nuclear mitochondrial DNA sequences (NUMTs) in the <jats:italic>CD40LG<\/jats:italic> gene that have resulted in X\u2010HIGM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) analysis was used to screen for causal variants in the genome, and the candidate breakpoint was confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A new mutation of <jats:italic>CD40LG<\/jats:italic>, which deletes A at position 17 followed by a 147\u2010nucleotide from mitochondrial DNA copies insertion in exon 1, was detected in a 20\u2010month\u2010old boy harbouring an X\u2010HIGM combined with immunodeficiency syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is one of the few cases of a human genetic disease caused by nuclear mitochondrial DNA sequences (NUMTs). The presented data serve to demonstrate that de novo NUMT transfer of nucleic acid is a novel mechanism of X\u2010HIGM.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1646","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T06:28:20Z","timestamp":1616653700000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mitochondrial DNA insert into CD40 ligand gene\u2010associated X\u2010linked hyper\u2010IgM syndrome"],"prefix":"10.1002","volume":"9","author":[{"given":"Xuejing","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pulmonology Children\u2019s Hospital of Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pulmonology Children\u2019s Hospital of Zhejiang University 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