Pathogenic variants in the Golgi localised alpha 1,6 fucosyltransferase, FUT8 , cause a rare inherited metabolic disorder known as FUT8‐CDG. To date, only three affected individuals have been reported presenting with a constellation of symptoms including intrauterine growth restriction, severe delays in growth and development, other neurological impairments, significantly shortened limbs, respiratory complications, and shortened lifespan. Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in FUT8. Analysis of serum N ‐glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8‐CDG. Our data expands both the molecular and clinical phenotypes of FUT8‐CDG and highlights the importance of identifying a reliable biomarker for confirming potentially pathogenic variants.

中文翻译：

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扩展 FUT8-CDG 的分子和临床表型。

高尔基体 α 1,6 岩藻糖基转移酶FUT8中的致病变异导致一种罕见的遗传性代谢紊乱，称为 FUT8-CDG。迄今为止，只有三名受影响的个体被报告出现一系列症状，包括宫内生长受限、生长发育严重延迟、其他神经系统损伤、四肢显着缩短、呼吸系统并发症和寿命缩短。在这里，我们报告了另外四个无关的受影响个体，它们是FUT8 中新型致病变异的纯合子。血清氮分析-聚糖显示完全缺乏核心岩藻糖基化，这是 FUT8-CDG 的重要诊断生物标志物。我们的数据扩展了 FUT8-CDG 的分子和临床表型，并强调了确定可靠生物标志物以确认潜在致病变异的重要性。