Mutations in Fucosidosis Gene: a Review

Abstract

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.

Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases

“…This accumulation can also have pleiotropic effects on cellular functions, including synaptic release, exocytosis, and autophagy [273]. Mutations related to glycoproteinoses are listed in Supplementary Table S5 [275][276][277][278][279][280][281][282][283][284][285][286][287][288][289].…”

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

“…The mean age of the first symptom presentation is 1.2 ± 0.8 years [ 2 ]. Early onset cases (before the age of one year) with rapid progression were labeled Fucosidosis type I, while those labeled Fucosidosis type II had milder symptoms, slower progression, and longer survival [ 1 , 16 , 17 ].…”

“…Coarse faces, thickened lips, enlarged tongue, respiratory tract infections (in up to 78%), mild dysostosis multiplex (58%), mild mitral regurgitation (50%), and growth retardation are common physical findings [ 2 ]. Eye abnormalities could be found due to storage material in conjunctival, retinal, and skin vessels: dilated and tortuous retinal veins (54%), dilated and tortuous conjunctival vessels (41%), corneal opacities (11%), and pigmentary retinopathy (7%) [ 1 , 2 , 17 ].…”