Amish, Mennonite, and Hutterite
Genetic Disorder Database

Sialidosis, type II

Disorder
OMIM #: #256550  (Click to access OMIM database)
Disorder: Sialidosis, type II 
Also known as: Neuraminidase deficiency 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Colony Mennonite  
Gene: NEU1
Base Change: G>A, at nucleotide 69
Amino Acid Change: trp 23 --> term
Last updated: 2018-04-19 

References
Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA. (2004) Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat Jan;23(1):32-9.
PubMed ID: 14695530 

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