Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)

Figures & data

Table I. Clinical features of subjects in study.

Case no.	Gender	Age (EAS)	Onset (age)	Progressiveness	Inheritance mode	Responsible gene	Implant	Insertion depth (mm)
1	F	59	Late (43)	+	Sporadic	N/I	PULSAR FLEXeas	24
2	F	71	Late (30)	+	AD	N/I	PULSAR FLEXeas	24
3	F	45	Late (25–30)	+	Sporadic	N/I	PULSAR FLEXeas	24
4	F	38	Late (34)	+	Sporadic	N/I	PULSAR FLEXeas	24
5	F	46	Late (30)	+	AD	N/I	PULSAR FLEXeas	24
6	M	29	Late (10)	+	AD	N/I	PULSAR FLEXeas	24
7	M	39	Late (20)	+	AD	N/I	PULSAR FLEXeas	24
8	F	35	Late (25)	+	Sporadic	N/I	PULSAR FLEXeas	24
9	M	52	Late (25)	+	Mitochondrial	Mit. 1555A>G	PULSAR FLEXeas	24
10	F	51	Late (30)	+	AD	N/I	PULSAR FLEXeas	24
11	M	39	Late (6)	+	Sporadic	N/I	PULSAR FLEXeas	24
12	F	45	Late (25)	+	Sporadic	N/I	PULSAR FLEXeas	24
13	F	38	Late (10)	+	AR	N/I	PULSAR FLEXeas	24
14	F	60	Late (40)	+	AD	N/I	Combi 40+ standard	31.5
15	M	68	Late (50)	+	Sporadic	N/I	PULSAR FLEXsoft	31.5
16	M	12	Early (3)*	+	AR	CDH23	PULSAR FLEXsoft	31.5
17	M	12	Early (1 year 8 months)*	+	AR	CDH23	PULSAR FLEXsoft	31.5
18	M	1	Early (0)^†	NA	Sporadic	CDH23	PULSAR FLEXsoft	31.5

N/I, not identified within four genes.

*Most probably congenital.

^†Newborn hearing screening.

Figure 1. Case no. 16. (A) Endoscopic view of round window insertion, (B) montage CT image, (C) imaging with putative location of electrode and the referential tonotoic map, (D) preoperative and postoperative audiograms. The image of human cochlea neural tissues stained by osmium tetroxide used in Figures 1,2,3,4 was kindly provided by Dr C.G. Wright, USWT, Dallas, USA (red, mm from round window; black, corresponding frequency). (E) Pedigree and the mutations found in the CDH23 gene.

Figure 2. Case no. 17. (A) Endoscopic view of round window insertion, (B) montage CT image, (C) imaging with putative location of electrode and the referential tonotoic map, (D) preoperative and postoperative audiograms. (E) Pedigree and the mutations found in the CDH23 gene.

Figure 3. Case no. 18. (A) Endoscopic view of round window insertion, (B) montage CT image, (C) imaging with putative location of electrode and the referential tonotoic map, (D) preoperative ASSR findings (blue, left; red, right) and postoperative COR audiogram finding. (E) Pedigree and the mutations found in the CDH23 gene. (F) Auditory behavioral development assessed by LittlEARS® Auditory Questionnaire. The development curve shows rapid improvement in auditory behavior reaching the curve of normally developed children.

Figure 4. Case no. 9. (A) Endoscopic view of round window insertion, (B) postoperative X-ray finding, (C) imaging with putative location of electrode and the referential tonotoic map, (D) preoperative and postoperative audiograms. (E) Pedigree and the subjects with the mitochondrial 1555 mutations.