title: Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
abstract: Sialidosis is a lysosomal storage disease caused by the deficiency of alpha-N-acetyl neuraminidase-1 (NEU1). Sialidosis is classified into two main clinical variants: Type I, the milder form of the disease, and Type II, which can in turn be subdivided into three forms: congenital, infantile and juvenile. We report herein the clinical, biochemical and molecular characterisation of two patients with Type II sialidosis exhibiting the congenital (P1) and infantile forms (P2). We also review clinical data on the rare Type II forms of sialidosis in the hope of improving understanding of the disorder and facilitating its diagnosis. The genetic characterization of the two patients showed one known [c. 679G > A (p.G227R)] NEU1 missense mutation (detected in P2), and the new c.807 + 1G > A splicing defect (detected in P1), a genetic lesion that is extremely rare in this disease. Interestingly, P2 presented an extremely elevated level of chitotriosidase in plasma. This is the first pathological detection of chitotriosidase in sialidosis patients.
authors: A
authors: A
authors: Caciotti
authors: M
authors: M
authors: Di Rocco
authors: M
authors: M
authors: Filocamo
authors: S
authors: S
authors: Grossi
authors: F
authors: F
authors: Traverso
authors: A
authors: A
authors: d'Azzo
authors: C
authors: C
authors: Cavicchi
authors: A
authors: A
authors: Messeri
authors: R
authors: R
authors: Guerrini
authors: E
authors: E
authors: Zammarchi
authors: M A
authors: MA
authors: Donati
authors: Amelia
authors: A
authors: Morrone
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009439:Neuraminidase / Q000235:genetics*; D055815:Young Adult
chemical_list: D006596:Hexosaminidases; C086400:chitotriosidase; C486385:NEU1 protein, human; D009439:Neuraminidase