Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria
OBJECTIVE: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.
METHODS: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.
RESULTS: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.
CONCLUSION: Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:33 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 33(2016), 1 vom: 23. Feb., Seite 48-52 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Deng, Yukui [VerfasserIn] |
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| Links: |
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| Themen: |
Alcohol Oxidoreductases |
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| Anmerkungen: |
Date Completed 21.04.2016 Date Revised 26.11.2016 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.issn.1003-9406.2016.01.012 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM257021353 |
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| 245 | 1 | 0 | |a Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria |
| 264 | 1 | |c 2016 | |
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| 500 | |a Date Completed 21.04.2016 | ||
| 500 | |a Date Revised 26.11.2016 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria | ||
| 520 | |a METHODS: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing | ||
| 520 | |a RESULTS: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes | ||
| 520 | |a CONCLUSION: Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Alcohol Oxidoreductases |2 NLM | |
| 650 | 7 | |a EC 1.1.- |2 NLM | |
| 650 | 7 | |a L2HGDH protein, human |2 NLM | |
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| 700 | 1 | |a Tang, Gen |e verfasserin |4 aut | |
| 700 | 1 | |a Wen, Pengqiang |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Guobing |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Cailei |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Zhanling |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Xiuwei |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Xiaohong |e verfasserin |4 aut | |
| 700 | 1 | |a Cui, Dong |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Chengrong |e verfasserin |4 aut | |
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