Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mucolipidosis II alpha/beta

Disorder
OMIM #: #252500  (Click to access OMIM database)
Disorder: Mucolipidosis II alpha/beta 
Also known as: I-Cell Disease
Mucolipidosis II 
Clinical
Phenotype: hypotonia, recurrent aspiration, failure to thrive  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: GNPTAB
Base Change: c.3503_3504delTC
Amino Acid Change: p.Leu1168Glnfs*5
2   Old Order Mennonite  
Gene: GNPTAB
Base Change: c.732_733delAA
Amino Acid Change:
Last updated: 2018-12-14 

References
Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. (2011) Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Clin Genet Sep;80(3):273-80.
PubMed ID: 20880125 

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