The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reporte...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2017-12-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-60-408.pdf |
| _version_ | 1811239965606019072 |
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| author | Young A Kim Yoo-Mi Kim Yun-Jin Lee Chong Kun Cheon |
| author_facet | Young A Kim Yoo-Mi Kim Yun-Jin Lee Chong Kun Cheon |
| author_sort | Young A Kim |
| collection | DOAJ |
| description | Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis. |
| first_indexed | 2024-04-12T13:11:07Z |
| format | Article |
| id | doaj.art-9c8fc186de2c4fe49ab08e7c3583f20f |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-04-12T13:11:07Z |
| publishDate | 2017-12-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-9c8fc186de2c4fe49ab08e7c3583f20f2022-12-22T03:31:52ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582017-12-01601240841210.3345/kjp.2017.60.12.40820125550689The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigationYoung A Kim0Yoo-Mi Kim1Yun-Jin Lee2Chong Kun Cheon3Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.http://kjp.or.kr/upload/pdf/kjped-60-408.pdfOxidative phosphorylationEncephalopathyHyperlactatemia |
| spellingShingle | Young A Kim Yoo-Mi Kim Yun-Jin Lee Chong Kun Cheon The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation Korean Journal of Pediatrics Oxidative phosphorylation Encephalopathy Hyperlactatemia |
| title | The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation |
| title_full | The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation |
| title_fullStr | The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation |
| title_full_unstemmed | The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation |
| title_short | The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation |
| title_sort | first korean case of combined oxidative phosphorylation deficiency 17 diagnosed by clinical and molecular investigation |
| topic | Oxidative phosphorylation Encephalopathy Hyperlactatemia |
| url | http://kjp.or.kr/upload/pdf/kjped-60-408.pdf |
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