Yang T , Gurrola JG , Wu H , Chiu SM , Wangemann P , Snyder PM , Smith RJ .

HL072256 NHLBI NIH HHS , R01-DC02842 NIDCD NIH HHS , R01-DC1098 NIDCD NIH HHS , R01 DC001098 NIDCD NIH HHS , R01 DC002842 NIDCD NIH HHS , R01 HL072256 NHLBI NIH HHS

             inner ear development
             cochlear outer hair cell electromotile response
             outer hair cell apoptotic process

                autosomal recessive nonsyndromic deafness 4
                hypothyroidism

           DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

	Figure 1 Double Heterozygosity for Mutations in KCNJ10 and SLC26A4 in Family 82120 with EVA/PS (A) Pedigree and genotypes of the family, showing that the parents and their unaffected child carry a single mutation in either SLC26A4 or KCNJ10 and that the affected child carries both mutations. (B) Representative chromatograms of the SLC26A4 c.919-2A→G and KCNJ10 p.R348C mutations identified in this family.
	Figure 2 Voltage-Clamp Analysis of K+ Conductance of WT and Mutant KCNJ10 (A) Representative trace of current (top) and voltage commands (bottom) versus time in Xenopus oocyte expressing WT KCNJ10. A 1 mM final concentration of channel blocker BaCl2 was added into the extracellular bath at the time point near 20 s, as indicated (black bar). (B) Steady-state current-voltage relationship for WT and mutant KCNJ10 (mean ± SE, n = 6). For clarity, error bars are shown only for WT and R348C mutant KCNJ10. The differences between the currents of WT and mutant KCNJ10 are statistically significant at voltages between −120 mV and −20 mV (p < 0.05), as indicated by asterisks. The slopes of the current-voltage relationship in the linear range between −120 mV and 0 mV were calculated by linear regression analysis and are shown at the right of each curve (from top: WT, R348C, and P194H; R2 values are shown in parentheses).
	Figure 3 Quantitative Immunoblot Analysis of Kcnj10 Expression in Mouse Stria Vascularis (A) Representative immunoblot showing protein expression of Kcnj10 and β-tubulin in equal sample volumes from Slc26a4+/+, Slc26a4+/−, and Slc26a4−/− mice. Molecular weights (kDa) of protein standards are marked on the right side. The two major bands of 120 kDa and 50 kDa and the minor smears of Kcnj10 reflect variable protein glycosylation, stoichiometry, and ubiquitination, as previously reported,9 and all are included in the quantitative analysis. (B) Quantification of Kcnj10 expression normalized against β-tubulin control expression. Reduced expression of Kcnj10 in the stria vascularis of Slc26a4+/− and Slc26a4−/− mice as compared to WT mice (mean percentage ± SE, n = 3) is shown as scaled bars. The differences in Kcnj10 expression between Slc26a4+/− and Slc26a4+/+ mice and between Slc26a4−/− and Slc26a4+/+ mice are statistically significant (p < 0.05), as indicated by asterisks.

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