Identification of PRODH Mutations in Korean Neonates with Type 1 Hyperprolinemia
DC Field | Value | Language |
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dc.contributor.author | Jang, Mi-Ae | - |
dc.contributor.author | Kim, Byung Cheol | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Lee, Soo-Youn | - |
dc.contributor.author | Kim, Jong-Won | - |
dc.contributor.author | Choi, Tae Youn | - |
dc.contributor.author | Lee, Dong Hwan | - |
dc.contributor.author | Song, Junghan | - |
dc.contributor.author | Lee, Yong-Wha | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.date.accessioned | 2021-08-12T02:25:03Z | - |
dc.date.available | 2021-08-12T02:25:03Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.issn | 1550-8080 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/14555 | - |
dc.description.abstract | Background: Hyperprolinemia is a rare inherited metabolic disorder characterized by a high proline level in blood and/or urine and various neuropsychiatric symptoms. Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. Herein, we present a study of Korean patients with type I hyperprolinemia who were diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. Methods: Four neonates were referred to our hospital for workup of high proline levels in newborn screening test. We analyzed the biochemical findings and the PRODH gene was amplified by long-range PCR to confirm molecular genetic abnormalities. Results: All patients had high plasma proline levels, ranging from 742 to 1192 mu mol/L (reference range, 77.4 - 244.6 mu mol/L). In molecular analysis, 4 disease-associated mutant alleles were identified: c.1414G>A (p.A472T), c.1279G>A (p.V427M), c.1357C>T (p.R453C) and c.1562A>G (p.Q521R). All mutations were missense and c.1279G>A included the majority of mutant alleles. No relationships between type of mutation and clinical outcomes were observed. Conclusion: We found that distinct molecular alterations of the PRODH gene result in abnormal proline levels. Newborn screening and molecular analysis are necessary to identify patients before clinical expression of metabolic disease. | - |
dc.format.extent | 6 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Institute for Clinical Science | - |
dc.title | Identification of PRODH Mutations in Korean Neonates with Type 1 Hyperprolinemia | - |
dc.type | Article | - |
dc.publisher.location | 미국 | - |
dc.identifier.scopusid | 2-s2.0-84875077819 | - |
dc.identifier.wosid | 000314672100004 | - |
dc.identifier.bibliographicCitation | Annals of Clinical and Laboratory Science, v.43, no.1, pp 31 - 36 | - |
dc.citation.title | Annals of Clinical and Laboratory Science | - |
dc.citation.volume | 43 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 31 | - |
dc.citation.endPage | 36 | - |
dc.type.docType | Article | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | sci | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Medical Laboratory Technology | - |
dc.relation.journalWebOfScienceCategory | Medical Laboratory Technology | - |
dc.subject.keywordPlus | I HYPERPROLINEMIA | - |
dc.subject.keywordPlus | INVOLVEMENT | - |
dc.subject.keywordPlus | CHILDREN | - |
dc.subject.keywordAuthor | Korean | - |
dc.subject.keywordAuthor | mutation | - |
dc.subject.keywordAuthor | PRODH | - |
dc.subject.keywordAuthor | type I hyperprolinemia | - |
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