Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Dai, Pu; Yuan, Yongyi; Huang, Deliang; Zhu, Xiuhui; Yu, Fei; Kang, Dongyang; Yuan, Huijun; Wu, Bailin; Han, Dongyi; Wong, Lee-Jun C

doi:10.1186/1479-5876-6-74

Table 1 Phenotype and genotype of SLC26A4 gene related hearing impairment in Inner mongilia

From: Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Patient number	Age	Genotype						Phenotype
		Allele 1			Allele 2			CT	Age of onset	Diameter (mm)	PTA (L) (dB)	PTA (R) (dB)	Thyroid hormone	US scan Of thyroid
		Nucleotide Change	amino acid change	category	nucleotide change	amino acid change	category
1	17	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	^aEVA	0.7	3.28	82.	93	normal	normal
2	17	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	2	3.33	103	106	normal	normal
3	9	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	2.5	2.73	93	95	Total T3 slightly elevated	normal
4	16	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	0	2.73	97	97	normal	normal
5	10	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	1	3.64	76	93	normal	normal
6	14	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	2	2.73	96	83	normal	normal
7	10	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	1	2.0	88	95	normal	normal
8	8	IVS7-2	aberrant splicing	pathogenic	IVS7-2	aberrant splicing	pathogenic	EVA	2	1.64	101	95	normal	normal
9	19	IVS7-2	aberrant splicing	pathogenic	230A>T	K77I	pathogenic	EVA	4	2.22	71	55	normal	normal
10	16	IVS7-2	aberrant splicing	pathogenic	1229C>T	^bT410M	pathogenic	EVA	3	4.55	78	77	normal	normal
11	14	IVS7-2	aberrant splicing	pathogenic	1975G>C	^bV659L	pathogenic	EVA	3	4.19	95	95	normal	normal
12	13	IVS7-2	aberrant splicing	pathogenic	2168A>G	H723R	pathogenic	EVA	3.5	4.55	96	85	normal	normal
13	13	2168A>G	H723R	pathogenic	109G>T	E37X, nonsense mutation	pathogenic	EVA	0	2.89	90	87	normal	Cystoid change
14	19	2168A>G	H723R	pathogenic	1229C>T	^bT410M	pathogenic	EVA	1.5	2.44	107	102	normal	normal
15	17	2168A>G	H723R	pathogenic	*2167C>G*	*H723D*	*Unclassified variant*	EVA	0.25	5.46	85	100	normal	normal
16	14	1173C>A	S391R	pathogenic	1229C>T	^bT410M	pathogenic	EVA	0.1	3.33	95	90	normal	normal
17	10	*1124A>G*	*Y375C*	*Unclassified variant*	*1409G>A*	*R470H*	*Unclassified variant*	Vestibular and cochlear malformation	0.1		^aNA	NA	NA	NA
18	19	*1472T>C*	*I491T*	*Unclassified variant*				EVA and Mondini	0.6	4.44	100	100	NA	NA
19	16	IVS7-2	aberrant splicing	pathogenic				EVA	2	5.46	93	92	Total T3 slightly elevated	normal
20	10	IVS7-2	aberrant splicing	pathogenic				EVA	2	2.66	76	77	normal	normal
21	17	IVS7-2	aberrant splicing	pathogenic	1905G>A	E635E	Silent variant	^aND	1		84	107	NA	NA
22	19	1174A>T	N392Y	pathogenic				ND	0		100	100	NA	NA
23	16	IVS7-2	aberrant splicing	pathogenic				^anl	1		110	102	NA	NA
24	24	IVS7-2	aberrant splicing	pathogenic				nl	1.1		100	100	NA	NA
25	19	*1790T>C*	*L597S*	*Unclassified variant*				nl	1.2		100	100	NA	NA
26	17	1975G>C	^bV659L	pathogenic				nl	0		98	100	normal	normal
27	15	*757A>G*	*I253V*	*Unclassified variant*				nl	1		110	108	NA	NA
28	17	*200C>G*	*T67S*	*Unclassified variant*				nl	1.3		95	100	normal	normal
29	13	*IVS12-6 insT*	*Intron insertion*	*Unclassified variant*				nl	1		97	100	NA	NA
30	16	225C>G	L75L	Silent variant				ND	0		110	103	NA	NA
31	20	678T>C	A226A	Silent variant				nl	1		105	105	NA	NA
32	18	1905G>A	E635E	Silent variant				nl	0.7		110	110	normal	normal

Novel mutations are in bold and italic. nl = normal, EVA = enlarged vestibular aqueduct, ND = not determined, NA = not available, CT = computerized tomography, PTA(L) or (R) = pure tone average(left) or (R), IVS7 = intravening sequence 7 (intron 7), IVS12 = intravening sequence 12 (intron 12), Diameter = Diameter at the midpoint between the common crus and the external aperture.

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ISSN: 1479-5876

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