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

Table 2 Distribution of SLC26A4 mutations in the different groups

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

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

ISSN: 1479-5876