Amish, Mennonite, and Hutterite
Genetic Disorder Database

Deafness and myopia

Disorder
OMIM #: #221200  (Click to access OMIM database)
Disorder: Deafness and myopia 
Also known as: DFNMYP 
Clinical
Phenotype: developmental delay/mental retardation, hearing impairment, myopia, proteinuria, hematuria 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SLITRK6
Base Change: c.1240C>T
Amino Acid Change: p.Q414*
Last updated: 2017-12-21 

References
Eldridge R, Berlin CI, Money JW, and McKusick VA. (1968) Cochlear deafness, myopia, and intellectual impairment in an Amish family: a new syndrome of hereditary deafness. Arch Otolaryngol 88(1): 49-54.
PubMed ID: 5660029 
Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E. (2014) A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. Laryngoscope Mar;124(3):E95-103.
PubMed ID: 23946138 
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. (2013) SLITRK6 mutations cause myopia and deafness in humans and mice.
PubMed ID: 23543054 

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