{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:45Z","timestamp":1775804805983,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271493"],"award-info":[{"award-number":["82271493"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This study investigated clinical and genetic characteristics of Chinese pediatric patients with single large\u2010scale mitochondrial DNA deletions (SLSMD). We analyzed 28 patients (July 2004\u2013March 2025) using long\u2010range PCR and next\u2010generation sequencing. Spearman correlation and ANOVA assessed genotype\u2013phenotype relationships. Patients (mean age 5.52\u2009\u00b1\u20093.96\u2009years) exhibited multi\u2010organ involvement (5.43\u2009\u00b1\u20091.87 organs). Common initial presentations included ocular (29%), neurologic, and endocrine dysfunction. Only 14.3% had the classic 4977\u2009bp deletion, and 23 novel deletions were identified in 25 patients. Larger deletions correlated with more deleted MRC complexes (\n                    <jats:italic>r<\/jats:italic>\n                    \u2009=\u20090.516,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0123) and more deleted tRNAs (\n                    <jats:italic>r<\/jats:italic>\n                    \u2009=\u20090.534,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0103). Kearns\u2010Sayre syndrome (KSS) patients had later onset (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0337), larger deletions (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0263), and greater tRNA\/MRC complex (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0263,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0319) involvement than non\u2010KSS patients. SLSMD in Chinese children primarily causes KSS, Pearson syndrome (PS), and progressive ophthalmoplegia with multi\u2010organ involvement. Genotype\u2013phenotype correlations exist, particularly between deletion size, onset age, and disease severity. KSS patients show distinct genetic and clinical profiles, suggesting slower progression. This study expands the known SLSMD spectrum and underscores mitochondrial testing in pediatric multi\u2010organ disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.70089","type":"journal-article","created":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T12:45:54Z","timestamp":1760186754000},"page":"639-651","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013Phenotype Correlations in Chinese Pediatric Patients With Single Large\u2010Scale Mitochondrial\n                    <scp>DNA<\/scp>\n                    Deletion Disorders"],"prefix":"10.1111","volume":"109","author":[{"given":"Jun","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minhan","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaolong","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiuwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,11]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2016.11.088"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.05.039"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41577-022-00760-x"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12985"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.1.22"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0289-8"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.126"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199908000-00005"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S509050"},{"issue":"123","key":"e_1_2_13_12_1","first-page":"1.23","article-title":"mtDNA Variation and Analysis Using Mitomap and Mitomaster","volume":"44","author":"Lott M. 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