{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T21:11:07Z","timestamp":1787346667777,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,11]],"date-time":"2015-04-11T00:00:00Z","timestamp":1428710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan","award":["Grant for NCCHD 25-10"],"award-info":[{"award-number":["Grant for NCCHD 25-10"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diabet. Med."],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p>Abnormalities in the imprinted locus on chromosome 6q24 are the most common causes of transient neonatal diabetes mellitus (6q24\u2010related transient neonatal diabetes). 6q24\u2010Related transient neonatal diabetes is characterized by the patient being small\u2010for\u2010gestational age, diabetes mellitus at birth, spontaneous remission within the first few months and frequent recurrence of diabetes after childhood. However, it is not clear whether individuals with 6q24 abnormalities invariably develop transient neonatal diabetes. This study explored the possibility that 6q24 abnormalities might cause early\u2010onset, non\u2010autoimmune diabetes without transient neonatal diabetes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The 6q24 imprinted locus was screened for abnormalities in 113 Japanese patients with early\u2010onset, non\u2010obese, non\u2010autoimmune diabetes mellitus who tested negative for mutations in the common maturation\u2010onset diabetes of the young (MODY) genes and without a history of transient neonatal diabetes. Positive patients were further analysed by combined loss of heterozygosity \/ comparative genomic hybridization analysis and by microsatellite analysis. Detailed clinical data were collected through the medical records of the treating hospitals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three patients with paternal uniparental isodisomy of chromosome 6q24 were identified. None presented with hyperglycaemia in the neonatal period. Characteristically, these patients were born small\u2010for\u2010gestational age, representing 27.2% of the 11 patients whose birth weight standard deviation score (SDS) for gestational age was below \u22122.0.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Abnormalities in the imprinted locus on chromosome 6q24 do not necessarily cause transient neonatal diabetes. Non\u2010penetrant 6q24\u2010related diabetes could be an underestimated cause of early\u2010onset, non\u2010autoimmune diabetes in patients who are not obese and born small\u2010for\u2010gestational age.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.12758","type":"journal-article","created":{"date-parts":[[2015,3,25]],"date-time":"2015-03-25T08:52:01Z","timestamp":1427273521000},"page":"963-967","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Abnormalities in chromosome 6q24 as a cause of early\u2010onset, non\u2010obese, non\u2010autoimmune diabetes mellitus without history of neonatal diabetes"],"prefix":"10.1111","volume":"32","author":[{"given":"T.","family":"Yorifuji","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"},{"name":"Department of Genetic Medicine Osaka City General Hospital Osaka Japan"},{"name":"Clinical Research Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Matsubara","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sakakibara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kawakita","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Hosokawa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Fujimaru","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism Children's Medical Center Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Osaka City General Hospital Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Tamagawa","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Osaka 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