Deafness and myopia

Definition:

Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6. SLITRK family proteins control neurite outgrowth and regulate synaptic development.

References:

[1]. Mustafa Tekin, et al. SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013 May;123(5):2094-102. [Content Brief]

[2]. Yoshifumi Matsumoto, et al. Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice. PLoS One. 2011 Jan 26;6(1):e16497. [Content Brief]

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