Türk Necati Emrecan, Belkaya Serkan, Teke Selçuk, Kırsaçlıoğlu Ceyda Tuna, Eminoğlu Fatma Tuba, Çalıkoğlu Tunahan, Kansu Aydan, Kuloglu Zarife
Ankara University, School of Medicine, Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Ankara, Turkey.
Bilkent University, Faculty of Science, Department of Molecular Biology and Genetics, Ankara, Turkey.
J Hum Genet. 2025 Jul;70(7):375-379. doi: 10.1038/s10038-025-01339-9. Epub 2025 Apr 11.
Transient infantile hypertriglyceridemia is one of the diseases that should be considered in case of unexplained elevated liver enzymes, hypertriglyceridemia and hepatosteatosis. We report 2 siblings with novel homozygous variants in the GPD1 gene with transient infantile hypertriglyceridemia. Two siblings born from consanguineous marriage were referred due to hepatomegaly, elevated transaminases and fatty liver. After excluding other possible causes of fatty liver and elevated transaminase levels; whole-exome sequencing (WES) was performed on genomic DNA isolated from the peripheral blood samples of both patients. Whole exome sequencing revealed the identification of a novel homozygous variant, c.628 G > C:p.G210R, in GPD1. Our report underscores the importance of genome sequencing in diagnosing unexplained childhood fatty liver disease and/or elevated enzyme levels. In patients with transient infantile hypertriglyceridemia, investigation into novel homozygous variants in the GPD1 gene should be conducted using whole exome sequencing.
短暂性婴儿高甘油三酯血症是出现不明原因的肝酶升高、高甘油三酯血症和肝脂肪变性时应考虑的疾病之一。我们报告了2例患有GPD1基因新型纯合变异的同胞患短暂性婴儿高甘油三酯血症的情况。两名近亲结婚出生的同胞因肝肿大、转氨酶升高和脂肪肝前来就诊。在排除脂肪肝和转氨酶水平升高的其他可能原因后；对从两名患者外周血样本中分离的基因组DNA进行了全外显子组测序（WES）。全外显子组测序显示在GPD1基因中鉴定出一种新型纯合变异，即c.628 G > C:p.G210R。我们的报告强调了基因组测序在诊断不明原因的儿童脂肪肝疾病和/或酶水平升高方面的重要性。对于患有短暂性婴儿高甘油三酯血症的患者，应使用全外显子组测序对GPD1基因中的新型纯合变异进行研究。
