Deafness and myopia
| Disorder | |
|---|---|
| OMIM #: | #221200 (Click to access OMIM database) |
| Disorder: | Deafness and myopia |
| Also known as: | DFNMYP |
| Clinical | |
| Phenotype: | sensorineural hearing loss, other aural abnormalities, myopia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SLITRK6 |
| Base Change: | c.1240C>T |
| Amino Acid Change: | gln 414 --> term |
| Last updated: | 2022-11-03 |
| 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. J Clin Invest May;123(5):2094-102. PubMed ID: 23543054 |
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