Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

Egyptian Journal of Medical Human Genetics

Table 2 Audiometric phenotype (air) in obligate heterozygotes and in those with an a priori c.35dupG (du), p.W77R (wr), c.35delG (dl) mutation carrier risk ≥ 37.5% [(25 + 50%)/2]

Subject code (mutation) (Fig. 1)	Mutation–carrier risk		Audiometric loss ≥ 25 dB		Confirmed DNA status
Subject code (mutation) (Fig. 1)	100%	≥ 37.5%	At age (years)	For ≥ 2 kHz dB	Confirmed DNA status
III-5 (du)		+	83	35	-
IV-3 (du/wr)	+		57	30	-
IV-4 (du/wr)	+		64	60	-
IV-5 (wr)		+	54	35	-
IV-9 (du)		+	61	50	-
IV-10 (du)		+	63	20	-
IV-13 (du)	+		61	60	-
IV-14 (dl)	+		63	0	-
IV-15 (dl)	+		71	45	-
IV-17 (dl)	+		78	45	-
IV-20 (dl)	+		75	50	-
V-1		+	35, 65, 80	0, 40, 35	+
V-2 (du)	+		40	55	-
V-4		+	30	0	-
V-9 (du)	+		70	50	+
V-16 (dl)	+		37, 65, 81	0, 45, 50	+
V-25 (wr)	+		8, 53	65, 70	+
VI-1 (du)	+		15, 46, 60	0, 40, 45	+
VI-2 (du)	+		65	30	+
VI-3 (du)	+		67	0	+
VI-6 (dl)	+		50	50	+
VI-14 (wr)	+		46, 62	20, 25	+
VII-5 (du)	+		25	0	+
VII-7 (du)	+		47	55	+
VII-8 (du)	+		45	0	+
VII-9 (du)	+		44	0	+
VII-16 (wr)	+		19	70	+
VIII-1 (du)	+		16	0	+
VIII-2 (du)	+		8	0	+
VIII-4 (de)	+			0	+