Skip to main content
. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Circ Cardiovasc Genet. 2013 Feb 7;6(2):193–200. doi: 10.1161/CIRCGENETICS.112.964684

Figure 4.

Figure 4

Potential genetic determinants of auditory phenotype in patients harboring mutations on both KCNQ1 alleles identified in the current study and previously in the literature. a. Comparison of mutation types identified in “recessive” type 1 long QT syndrome with intact hearing and Jervell and Lange-Nielsen syndrome cases. b. Percentage of truncating (e.g. nonsense, frameshift, etc.) and non-truncating (e.g. missense, in-frame deletion, etc.) mutations identified in “recessive” type 1 long QT syndrome with intact hearing and Jervell and Lange-Nielsen syndrome case, respectively. c. Location of putative “recessive” type 1 long QT syndrome with intact hearing- and Jervell and Lange-Nielsen syndrome-causative mutations in the Kv7.1 channel topology. Dark gray bars indicate “recessive” type 1 long QT syndrome cases, light gray bars indicate Jervell and Lange-Nielsen syndrome cases, and white circles indicate mutations seen in both “recessive” LQT1 and Jervell and Lange-Nielsen syndrome.