Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Table 1 Summary of clinical features of 22 patients

Age (years)			CT			PTA		Vertigo	Thyroid
Age (years)			EVA	MD	VE	HL (dB)	Conductive hearing loss	Vertigo	Goiter	Thyroid function
1	3	R	+	+	+	SO	unknown	-	-	normal
1	3	L	+	+	+	SO	unknown	-	-	normal
2	14	R	+	+	-	105	+	-	+	normal
2	14	L	+	+	-	96	+	-	+	normal
3	21	R	+	+	+	73	+	+	+	normal
3	21	L	+	+	+	91	+	+	+	normal
4	21	R	+	-	-	81	+	+	+	normal
4	21	L	+	-	-	85	+	+	+	normal
5	28	R	+	+	+	96	+	+	+	normal
5	28	L	+	+	+	SO	+	+	+	normal
6	33	R	+	+	-	101	+	+	+	normal
6	33	L	+	+	+	106	+	+	+	normal
7	1	R	+	+	-	SO	unknown	-	-	normal
7	1	L	+	+	+	SO	unknown	-	-	normal
8	1	R	+	-	-	SO	unknown	-	-	normal
8	1	L	+	-	-	103	unknown	-	-	normal
9	2	R	+	+	-	101	unknown	-	-	normal
9	2	L	+	+	-	100	unknown	-	-	normal
10	12	R	+	-	-	95	+	-	+	normal
10	12	L	+	-	-	100	+	-	+	normal
11	29	R	+	+	+	85	+	-	-
11	29	L	+	+	+	110	+	-	-
12	0	R	+	-	-	55	unknown	+	-	normal
12	0	L	+	-	-	73	unknown	+	-	normal
13	3	R	+	-	+	85	unknown	+	-	normal
13	3	L	+	+	+	58	+	+	-	normal
14	5	R	+	+	+	95	+	+	-	normal
14	5	L	+	+	+	93	+	+	-	normal
15	5	R	+	+	+	103	+	-	-	normal
15	5	L	+	+	+	100	unknown	-	-	normal
16	6	R	+	-	-	81	+	+	-	normal
16	6	L	+	-	-	91	+	+	-	normal
17	7	R	+	-	-	83	+	-	-	normal
17	7	L	+	-	+	81	+	-	-	normal
18	14	R	+	+	+	96	+	-	+	normal
18	14	L	+	+	+	91	+	-	+	normal
19	16	R	+	-	+	91	+	-	+	normal
19	16	L	-	-	+	21	-	-	+	normal
20	26	R	+	-	-	98	+	+	-	normal
20	26	L	+	-	+	103	+	+	-	normal
21	5	R	+	+	+	85	+	-	-	normal
21	5	L	+	+	-	97	+	-	-	normal
22	10	R	+	-	-	53	+	-	-	normal
22	10	L	-	-	-	15	-	-	-	normal

EVA enlarged vestibular aqueduct, MD Mondini malformation, VE vestibular enlargement, PTA pure tone audiogram, HL hearing level, SO scale out, NA no available data.

ISSN: 1471-2350