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Table 2 Distribution of SLC26A4 mutations in the different groups

From: Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Inner ear image No mutation Monoallelic mutation Biallelic mutation Total
MD 27 (96.4%) 1 (3.6%) 0 28 (100%)
EVA with MD 1 (2.0%) 3 (6.0%) 46 (92.0%) 50 (100%)
EVA 1 (2.0%) 3 (6.0%) 46 (92.0%) 50 (100%)
IEM 14 (87.5%) 2 (12.5%) 0 16 (100%)
Total 43 9 92 144
  1. MD: Isolated Mondini dysplasia, EVA with MD: Enlarged vestibular aqueduct with Mondini dysplasia, EVA: enlarged vestibular aqueduct without Mondini dysplasia, IEM: Other types of inner ear malformations