Common variants, G>A/A, (rs1227051, c.4723G>A) in CDH23 were identified in both brothers in homozygous form which had also been reported in Korean HL patients as a non-synonymous mutation.21 The same variation is presumed as polymorphism in Japanese population with NSHL
.22 Therefore, the present study is an agreement with previous studies.
Zubair et al described an incidence of 32% mediastinal involvement by NSHL
.12 In the present study the incidence of NSHL
was 58.33% (Table 2), which was confirmed by IHC.
Since GJB2 was identified as the responsible gene for hereditary hearing loss , over 80 genes and 2000 mutations have been identified causing NSHL till now (http:// deafnessvariationdatabase.org).
Multiple novel gene mutations revealed in one NSHL family are quite rare in the previous studies.
During the past two decades, tremendous progress has been made in the identification of causative genes that cause hereditary nonsyndromic hearing loss (NSHL).
[sup], Since then, only eight families with DFNA5 mutations segregating hereditary NSHL have been described in the literature.
Within each treatment, the highest overall frequency of risky-action choices is in the low-payoff NSHL game.
Evidence for certain-loss avoidance is again strong, as the estimated effect of the NSHL game is positive and significant in nearly all rounds of all treatments, although rather small in our new CF treatment relative to the others.
The high level of birth rate in consanguineous marriages (inbreeding) in the country makes the issue of primary prevention of such pathology as NSHL among children, as well as respective genetic counseling, highly important.
The inbreeding factor comes as an additional precondition in order to investigate the influence of the different genetic factors of NSHL in children.
Combining with previous studies, our study suggests that mutations in EYA4 are not a relatively rare cause for autosomal dominant NSHL in the Chinese population, and our data provide more insights into the genotype-phenotype correlation between the truncating mutation of EYA4 and the DFNA10 phenotype.
Further studies including the whole-exome sequencing in the negative families could be useful to discover potential novel NSHL genes and to draw a complete molecular epidemiology picture.