{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:49:17Z","timestamp":1793155757660,"version":"4.5.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"51","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"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":[],"published-print":{"date-parts":[[2022,12,23]]},"abstract":"<jats:sec>\n            <jats:title>Rationale:<\/jats:title>\n            <jats:p>Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by a mutation in the Paired box gene 4 (PAX4).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Patient concern:<\/jats:title>\n            <jats:p>A 19-months boy was admitted to the department of endocrinology at Beijing Children\u2019s Hospital due to excessive water drinking, polyuria for over half a month, and wheezing for 3 days.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Diagnose:<\/jats:title>\n            <jats:p>The whole-exon sequencing analysis demonstrated that the child carried the heterozygous missense mutation of c.487&gt;T in the 7th exon region of PAX4 gene and diagnosed MODY9.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Intervention:<\/jats:title>\n            <jats:p>The patient was treated with fluid therapy, ketosis correction, insulin, and anti-infection treatment.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Outcomes:<\/jats:title>\n            <jats:p>After 17 days in the hospital, the blood glucose levels remained stable and the patient was discharged.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Lessons:<\/jats:title>\n            <jats:p>In Chinese children, the heterozygous mutation of c.487C&gt;T in the PAX4 gene can lead to the occurrence of MODY9.Gene sequencing analysis is of great significance in the diagnosis and classification of MODY.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000032461","type":"journal-article","created":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T14:06:47Z","timestamp":1672150007000},"page":"e32461","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":14,"title":["C.487C&gt;T mutation in PAX4 gene causes MODY9: A case report and literature review"],"prefix":"10.1097","volume":"101","author":[{"given":"Di","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Capital Institute of Pediatrics, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Congli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenli","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yurong","family":"Piao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National Center for Children\u2019s Health, Beijing, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6213-2661","authenticated-orcid":false,"given":"Yanmei","family":"Sang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Genetic, and Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, National 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