{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T12:50:06Z","timestamp":1781095806641,"version":"3.54.1"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"27","license":[{"start":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T00:00:00Z","timestamp":1657238400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n            <jats:title>Introduction:<\/jats:title>\n            <jats:p>Mitochondrial complex I deficiency (MCID) and abbFINCA syndrome are lethal congenital diseases and cases in the neonatal period are rarely reported. Here, we identified a Chinese Hani minority neonate with rare MCID and FINCA syndrome. This study was to analyze the clinical manifestations and pathogenic gene variations, and to investigate causes of quick postnatal death of patient and possible molecular pathogenic mechanisms.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Patient concerns:<\/jats:title>\n            <jats:p>A 17-day-old patient had reduced muscle tension, diminished primitive reflexes, significantly abnormal blood gas analysis, and progressively increased blood lactate and blood glucose. Imaging studies revealed pneumonia, pulmonary hypertension, and brain abnormalities.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Diagnosis:<\/jats:title>\n            <jats:p>Whole-exome sequencing revealed that the <jats:italic toggle=\"yes\">NDUFS6<\/jats:italic> gene of the patient carried c. 344G &gt; T (p.C115F) novel homozygous variation, and the <jats:italic toggle=\"yes\">NHLRC2<\/jats:italic> gene carried c. 1749C &gt; G (p.F583L) and c. 2129C &gt; T (p.T710M) novel compound heterozygous variation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Interventions and outcomes:<\/jats:title>\n            <jats:p>The patient was given endotracheal intubation, respiratory support, high-frequency ventilation, antishock therapy, as well as iNO and Alprostadil to reduce pulmonary hypertension and maintain homeostatic equilibrium. However, the patient was critically ill and died in 27 days.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>The patient has MCID due to a novel mutation in <jats:italic toggle=\"yes\">NDUFS6<\/jats:italic> and FINCA syndrome due to novel mutations in <jats:italic toggle=\"yes\">NHLRC2<\/jats:italic>, which is the main reason for the rapid onset and quick death of the patient.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000029239","type":"journal-article","created":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T12:19:49Z","timestamp":1657282789000},"page":"e29239","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome"],"prefix":"10.1097","volume":"101","author":[{"given":"Yangfang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neonatology, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children\u2019s Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gengpan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children\u2019s Major Disease Research, Yunnan Institute of Pediatrics, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canlin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kunming Children\u2019s Hospital, Kunming 650228, Yunnan, 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