Skip to main content
. Author manuscript; available in PMC: 2009 Sep 1.
Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2008 Jun 27;72(9):1301–1309. doi: 10.1016/j.ijporl.2008.05.007

Figure 2.

Figure 2

(A) Pedigree of family with the H723R mutation. Filled symbol indicates affected person. The proband is marked with an arrow. (B) Direct sequencing chromatographs of the H723R mutation. Father, mother, sister, brother panel: the heterozygote of the H723R mutation. Proband panel: the homozygote of the H723R mutation. Missense mutation at nucleotide 2168 in exon 19 substituted arginine for histidine at amino acide 723. (C) Temporal bone CT images of the inner ear in the proband with bilateral EVA and Mondini’s malformation. The vestibular aqueducts in both ears are enlarged (white arrow). And the lateral semicircular canal and vestibule of both ears are dilated (asterisk). There are cochleae with incomplete partition (black arrow). Interscalar septum is absent between the each cochlear turns.