Table 2.
Prevalence of CDH23 mutations in East Asian
| Characteristics | Study1 | Study2 | Study3,4 |
|---|---|---|---|
| Ethnicity | Korean | Korean | Japan |
| Onset of hearing loss | Prelingual | Early onset | Pre & postlingual |
| Inheritance | AR, or sporadic | AR | AR, or sporadic |
| Degree of hearing loss | Severe-to-profound | Severe-to-profound | Various |
| Syndromic/nonsyndromic | Nonsyndromic | Nonsyndromic No GJB2 and SLC26A4 mutations |
Nonsyndromic |
| Frequency of CDH23 mutations | 3.13 (4/128) 4.82 (4/83)a |
15.38 (2/13) | 3.72 (52/1396)b
(33, postlingual, 19, prelingual) 1.6 (23/1396)c 2.5 (23/919)d |
| Frequency of p.P240L alleles | |||
| Affected | 2.34 (6/256) | 7.69 (2/26) | 1.61 (45/2792) |
| Control | 0 (0/544) | 0.12 (2/1636) | 0.26 (1/384) |
| Affected (in CDH23 mutations) | 85.71 (6/8) | 50.00 (2/4) | 60.01 (45/2792) |
| References | This study | [18] | [19] [24] |
AR autosomal recessive inheritance.
aThe prevalence of CDH23 mutations when excluding the subjects with GJB2 or SLC26A4 mutations.
bThe prevalence of CDH23 mutations with 10 homozygote, 13 compound heterozygote, excluding single heterozygote cases, 29 heterozygote.
cThe prevalence of CDH23 mutations with 10 homozygote, 13 compound heterozygote.
dThe prevalence of CDH23 mutations in autosomal recessive subjects, excluding sporadic cases.