Amish, Mennonite, and Hutterite
Genetic Disorder Database

Usher Syndrome, Type 1F

Disorder
OMIM #: #602083  (Click to access OMIM database)
Disorder: Usher Syndrome, Type 1F 
Also known as: USH1F 
Clinical
Phenotype: sensorineural hearing impairment, retinal pigmentation, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: PCDH15, E10 region
Base Change: del.T, at nucleotide 1471
Amino Acid Change: Frame shift
Last updated: 2009-03-15 

References
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, and Smith RJ. (2001) Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 10(16): 1709-1178.
PubMed ID: 11487575 

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