Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.
Department of Medical Genetics, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland.
Genes (Basel). 2020 Nov 22;11(11):1383. doi: 10.3390/genes11111383.
Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the gene resulting in α-L-fucosidase deficiency. Only 36 pathogenic variants in the gene are related to fucosidosis. Most of them are missense/nonsense substitutions; six missense and 11 nonsense mutations. Among deletions there were eight small and five gross changes. So far, only three splice site variants have been described-one small deletion, one complete deletion and one stop-loss mutation. The disease has a significant clinical variability, the cause of which is not well understood. The genotype-phenotype correlation has not been well defined. This review describes the genetic profile and clinical manifestations of fucosidosis in pediatric and adult cases.
岩藻糖苷贮积症是一种进行性神经退行性疾病。临床表现包括面容粗糙、生长迟缓、反复上呼吸道感染、多发性骨发育不良和弥漫性体血管角质瘤。岩藻糖苷贮积症是由于基因中的突变导致α-L-岩藻糖苷酶缺乏引起的。只有基因中的 36 种致病变异与岩藻糖苷贮积症有关。其中大多数是错义/无义替换；6 种错义突变和 11 种无义突变。缺失中有 8 个小的和 5 个大的变化。到目前为止，只描述了三种剪接位点变异——一个小缺失、一个完全缺失和一个无义突变。这种疾病具有显著的临床变异性，其病因尚不清楚。基因型-表型相关性尚未明确。本文综述了儿科和成人病例中岩藻糖苷贮积症的遗传特征和临床表现。
