p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
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土耳其柑橘缺乏症患者的 SLC25A13 基因 p.Val452Ile 突变。
DOI：
10.24953/turkjped.2017.03.012
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Neslihan Önenli
中科院分区：
文献类型：
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作者：
Berna Şeker;D. Kör;Gökhan Tümgör;S. Ceylaner;Neslihan Önenli
ŞEker-Yılmaz B，Kör D，Tümgör G，Ceylaner S，Önenli-Mungan N.p.Val452 Ile突变在土耳其柠檬蛋白缺乏症患者中的表达。土耳其儿科杂志2017；59：311-314。Citrin缺乏症是一种常染色体隐性代谢性疾病，由染色体7q21.3上编码肝型天冬氨酸/谷氨酸载体亚型2(AGC2)的致病基因SLC25A13突变引起。主要临床表现之一是由柠檬酸缺乏引起的新生儿肝内胆汁淤积性肝炎。我们报告一位土耳其儿童，表现为新生儿黄疸持续时间延长，伴随血浆瓜氨酸升高和半乳糖尿。SLC25A13的突变研究表明她是错义NM_014251.2：C.1354G>；A(NP_055066.1：p.Val452Ile)(数据库SNP：rs143877538)突变的纯合子。中链甘油三酯配方奶粉、熊去氧胆酸和脂溶维生素补充剂的饮食治疗效果显著。在南亚人群中，该变异的次要等位基因频率几乎为0.01；它似乎是一种致病变异。这是首次在土耳其和欧洲人群中发现这种变异。
Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N. p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. Turk J Pediatr 2017; 59: 311-314. 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.