Table 2.

SLC26A4 Phenotypes and Genotypes of Korean Subjects with Enlargement of the Vestibular Aqueduct

			Hearing (dB)a		SLC26A4 genotype
Subject	Sex	Age (yearmonth)	Right	Left	Allele 1	Allele 2
1	F	12	100	100	p.H723R	Wild type
2	F	17	110	70	Wild type	Wild type
3	M	9	110	110	p.H723R	p.M147V
4	F	12	110	110	p.H723R	p.V138L
5	M	16	110	110	p.H723R	c.919-2A>G
6	M	11	100	100	p.H723R	p.L676Q
7	M	8	100	100	p.P542R	Wild type
8	M	12	110	90	p.H723R	c.919-2A>G
9	F	4	NR	NR	p.H723R	p.H723R
10	M	21	110	110	p.H723R	Wild type
11	M	24/12	NR	NR	p.H723R	p.H723R
12	M	110/12	NR	NR	c.919-2A>G	p.V659L
13	F	7	85	85	c.919-2A>G	c.919-2A>G
14	F	12	NR	NR	p.H723R	p.H723R
15	M	7	NR	NR	p.H723R	p.H723R
16	F	8	NR	NR	p.H723R	p.H723R
17	F	3	75	85	p.H723R	p.H723R
18	M	24/12	NR	NR	p.H723Rb	p.V138Lb
					c.165-13T>Gb
19	M	2	NR	NR	p.H723R	p.H723R
20	M	12/12	NR	NR	Wild type	Wild type
21	M	34	100	100	Wild type	Wild type
22	F	8	90	90	p.H723R	Wild type
23	F	2	NR	NR	c.919-2A>G	Wild type
24	M	3	100	100	Wild type	Wild type
25	F	12	70	70	c.1707 + 5G>A	Wild type
26	M	21	NR	NR	p.H723R	Wild type
27	M	27	100	100	p.V138L	c.1149+3A>G

c.1341 + 47T>C (rs17154326) were detected in subjects 7 and 21. In subject 7, c.1341 + 47T>C was in trans with p.P542R.

Novel variants are in bold.

^aPure tone averages (dB HL) at 500 Hz, 1 kHz, and 2 kHz or auditory brainstem response threshold.

^bMeiotic configuration could not be determined.

NR, no response.