p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency
Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the main clinical presentations is neonatal intra...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2017-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/991 |
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| author | Berna Şeker-Yılmaz Deniz Kör Gökhan Tümgör Serdar Ceylaner Neslihan Önenli-Mungan |
| author_facet | Berna Şeker-Yılmaz Deniz Kör Gökhan Tümgör Serdar Ceylaner Neslihan Önenli-Mungan |
| author_sort | Berna Şeker-Yılmaz |
| collection | DOAJ |
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Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the main clinical presentations is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency. We report a Turkish child presented with prolonged neonatal jaundice associated with elevated plasma citrulline and galactosuria. NICCD was suspected at this point and mutation study of SLC25A13 showed that she was homozygous for the missense NM_014251.2:c.1354G > A (NP_055066.1:p.Val452Ile) (dbSNP: rs143877538) mutation. Dramatic response was observed to the dietary treatment with medium-chain triglycerides containing formula, ursodeoxycholic acid and fat-soluble vitamin supplementation. The minor allele frequency of this variant was given as nearly as 0.01 in the South Asian population; it seems like a disease causing variant. This is the first report of this variant in the Turkish and European population.
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| format | Article |
| id | doaj-art-6f077c724a5e4a0ca92c370a3771ee12 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-6f077c724a5e4a0ca92c370a3771ee122025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-06-0159310.24953/turkjped.2017.03.012p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiencyBerna Şeker-Yılmaz0Deniz Kör1Gökhan Tümgör2Serdar Ceylaner3Neslihan Önenli-Mungan4Division of Pediatric Metabolism, Department of Pediatrics, Mersin City Hospital, Mersin, Turkey.Divisions of Pediatric Metabolism, Çukurova University Faculty of Medicine Adana, Turkey.Pediatric Gastroenterology, Department of Pediatrics Çukurova University Faculty of Medicine Adana, Turkey.Intergen Genetics Laboratory, Medical Genetics, Ankara, Turkey.Divisions of Pediatric Metabolism, Çukurova University Faculty of Medicine Adana, Turkey. Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the main clinical presentations is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency. We report a Turkish child presented with prolonged neonatal jaundice associated with elevated plasma citrulline and galactosuria. NICCD was suspected at this point and mutation study of SLC25A13 showed that she was homozygous for the missense NM_014251.2:c.1354G > A (NP_055066.1:p.Val452Ile) (dbSNP: rs143877538) mutation. Dramatic response was observed to the dietary treatment with medium-chain triglycerides containing formula, ursodeoxycholic acid and fat-soluble vitamin supplementation. The minor allele frequency of this variant was given as nearly as 0.01 in the South Asian population; it seems like a disease causing variant. This is the first report of this variant in the Turkish and European population. https://turkjpediatr.org/article/view/991citrin deficiencynovel mutationprolonged neonatal jaundice |
| spellingShingle | Berna Şeker-Yılmaz Deniz Kör Gökhan Tümgör Serdar Ceylaner Neslihan Önenli-Mungan p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency The Turkish Journal of Pediatrics citrin deficiency novel mutation prolonged neonatal jaundice |
| title | p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency |
| title_full | p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency |
| title_fullStr | p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency |
| title_full_unstemmed | p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency |
| title_short | p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency |
| title_sort | p val452ile mutation of the slc25a13 gene in a turkish patient with citrin deficiency |
| topic | citrin deficiency novel mutation prolonged neonatal jaundice |
| url | https://turkjpediatr.org/article/view/991 |
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