Deafness and Myopia Syndrome
Seattle, United States. In Unknown Journal, Feb 2015
DIAGNOSIS/TESTING: Identification of biallelic pathogenic variants in SLITRK6 confirms the diagnosis of DFNMYP syndrome.
SLITRK6 mutations cause myopia and deafness in humans and mice.
Miami, United States. In J Clin Invest, 2013
Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein.
Region-specific gene expression in early postnatal mouse thalamus.
Saitama, Japan. In J Comp Neurol, 2011
We first demonstrated the selective expression of neurotransmitter-related genes (vGlut2, vGAT, D2R, and HTR2C), identifying the neurotransmitter subtypes of cells in this region, and we also demonstrated selective expression of additional genes in the thalamus (Steel, Slitrk6, and AI852580).