Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cohen Syndrome

Disorder
OMIM #: #216550  (Click to access OMIM database)
Disorder: Cohen Syndrome 
Also known as: COH1
HYPOTONIA, OBESITY, AND PROMINENT INCISORS
PEPPER SYNDROME 
Clinical
Phenotype: retinal pigmentation, myopia, developmental delay/mental retardation, microcephaly, short stature, hypotonicity, small hands and feet 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: VPS13B
Base Change: c.9260dupT
Amino Acid Change: Frame shift
2   Amish  
Gene: VPS13B
Base Change: T>C, at nucleotide 8459
Amino Acid Change: ile 2820> thr
Last updated: 2019-01-24 

References
Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, and Warman ML. (2004) Cohen syndrome in the Ohio Amish. Am J Med Genet A 128(1): 23-28.
PubMed ID: 15211651 

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