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首页> 外文期刊>Annals of Human Genetics >Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)
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Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

机译：果糖-1,6-双磷脂酶缺乏的印度患者的临床和分子特征：频繁变种的鉴定（E281K）

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Abstract Fructose‐1, 6‐bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life‐threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available. Therefore, genetic testing is the most appropriate method to confirm the diagnosis. Molecular studies were performed on 18 suspected cases presenting with episodic symptoms. Seven different pathogenic variants were identified. Two common variants were noted in two subpopulations from the Indian subcontinent; p.Glu281Lys (E281K) occurred most frequently (in 10 patients) followed by p.Arg158Trp (R158W, in 4 patients). Molecular analysis confirmed the diagnosis and helped in managing these patients by providing appropriate genetic counseling. In conclusion, genetic studies identified two common variants in the Indian subcontinent, thus simplifying the diagnostic algorithm in this treatable disorder.
机译：摘要果糖-1,6-双磷酶缺乏是由FBP1基因遗传缺陷引起的氨基糖苷的常染色体隐性障碍。它的特点是威胁危及生命的代谢酸中毒，肝功能障碍和超递质血症。如果没有高度的怀疑指数，它可能会因破坏性后果而持续存在。可以通过酶测定或基因研究来实现精确的诊断。酶测定需要肝脏活组织检查，并且是乏味的，侵入性的，昂贵的，而不易使用。因此，遗传检测是确认诊断的最合适的方法。对18例疑似病例进行分子研究，呈现出症状。鉴定出七种不同的致病变体。来自印度次大陆的两种群体中注意到了两种常见变体; P.Glu281lys（E281K）最常发生（10名患者），其次是P.Arg158TRP（R158W，4名患者）。分子分析证实了诊断并通过提供适当的遗传咨询来帮助管理这些患者。总之，遗传学研究确定了印度次大陆中的两种常见变体，从而简化了这种可治疗障碍中的诊断算法。

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