A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss

BMC Medical Genetics

Table 1 Clinical analysis, molecular evaluation and 1555A > G quantification in a six-generation pedigree with hearing loss

	Age(year)	PTA(dB) right ear	PTA(dB) Left ear	Audiometric configuration	Severity of hearing loss	GJB2	A1555G (A%)	A1555G (G%)	Use of aminoglycosideand age of onset(years)
II2	91	86	73	sloping	severe		33.4	66.6
III3	56	27	31	sloping	mild		4.4	95.6
III5	66	93	57	sloping	moderate		0	100
III7	64	43	49	sloping	moderate	T123N	0	100
III9	59	37	35	sloping	mild		4.1	95.9
III11	56	26	23		normal		0	100
III13	54	30	26	sloping	mild		0	100
III15	48	26	26	sloping	mild		0	100
IV13	45	100	103	sloping	profound		0	100
IV17	49	95	88	sloping	severe		0	100	18 years streptomycin
IV19	42	85	71	sloping	severe		3.4	96.9
IV21	39	79	66	sloping	moderate	T123N	5.1	94.9
IV23	35	82	85	sloping	severe	T123N	0	100	Congenital gentamycin
IV25	33	103	101	sloping	profound		0	100	4 years streptomycin
IV37	34	81	81	sloping	severe		2.2	97.8	7-8 months uncertain
IV39	32	98	98	sloping	profound	V27I T123N	0	100	5 years fever streptomycin
IV41	28	> 95	> 95	sloping	profound		0	100
IV43	26	103	100	sloping	profound	V27I T123N	0	100	3 years fever uncertain
IV45	34	98	98	sloping	profound	I203T	2.3	97.7	Congenital uncertain
IV47	32	88	90	sloping	severe	I203T	0	100	4 years uncertain
V28	10	27	27	sloping	mild	T123N	0	100
V17	15	25	24		normal	V27I	0	100
V18	6	25	22		normal		2.7	97.3
IV49	26	23	23		normal	V27I T123N	0	100

ISSN: 1471-2350