Tiberio G, Filocamo M, Gatti R, Durand P
Istituto di Genetica Medica e Gemellogia, G. Mendel, Roma.
Acta Genet Med Gemellol (Roma). 1995;44(3-4):223-32. doi: 10.1017/s0001566000001641.
Fucosidosis is an autosomal recessive disorder caused by a deficiency of alpha-L-fucosidase. Up to now 79 cases have been described and several others identified but not yet published. The higher incidence of the disease is in Italy, where nearly 20 patients have been identified. Fourteen disease-causing mutations have been detected and four of them, Q422X, G60D, E375X, P141fs are present in more than 70% of the forty patients studied. In Italian patients, only seven mutations have been described and P141fs and G60D mutations are present in more than 50% of the cases. The P141fs mutation is absent in other ethnic groups. It has been impossible to establish genotype-phenotype correlation so far and the clinical variability of the disease cannot be explained only by genetic heterogeneity.
岩藻糖苷贮积症是一种由α-L-岩藻糖苷酶缺乏引起的常染色体隐性疾病。截至目前，已报道79例，另有数例已确诊但尚未发表。该疾病在意大利发病率较高，已确诊近20例患者。已检测到14种致病突变，其中Q422X、G60D、E375X、P141fs这4种突变在40例研究患者中出现的比例超过70%。在意大利患者中，仅描述了7种突变，P141fs和G60D突变在超过50%的病例中出现。其他种族群体中不存在P141fs突变。迄今为止，尚无法建立基因型与表型的相关性，该疾病的临床变异性不能仅用基因异质性来解释。
