Lack of function within the cochlear hair cells leads to development of deafness.12 Similarly, CDH23
, (OMIM: 605516) gene encoding Cadherin-23 showed mutation in both NSHL (DFNB12) and Usher syndrome type ID (USH1D).13 CDH23
contain 69 exons and codes 3,354-amino-acid protein comprising 27 cadherin extracellular (EC) repeats, a transmembrane domain and a unique cytoplasmic domain.
Nonclassical cadherins include a large number of cadherins, including CDH13, desmosomal cadherin, 7D family protocadherins, CDH23
, fat-dachsous, CDH26, CDH28, flamingo, calsyntenins, and RET, which differ in a number of structural aspects, while still conforming to the basic cadherin structure.
Other common causative genes for autosomal recessive hearing disorder are MYO15A (encoding for myosin XV), OTOF (encoding for otoferlin, whose mutations are linked to an auditory neuropathy/dissynchorny), and CDH23
(encoding cadherin-23, whose mutations may also be responsible of Usher syndrome type 1D) [41, 49].
Screening for the SLC26A4 (NM_000441.1), MYO7A (NM_000260.3), MYO15A (NM_016239.3), OTOF (NM_194248.2), CDH23
(NM_022124.5), TMIE (NM_147196.2), TECTA (NM_005422.2), PCDH15 (NM_033056.3), TMC1 (NM_138691.2), TMPRSS3 (NM_024022.2), LHFPL5 (NM_182548.3) genes was performed using the open array method (TaqManR OpenArrayR) in 12 families in whom m.
All CDH genes (n = 27) screened in this study include CDH1 (E-cadherin), CDH2 (N-cadherin), CDH3 (P-cadherin), CDH4 (R-cadherin), CDH5 (VE-cadherin), CDH6 (K-cadherin), CDH7 (cadherin 7), CDH8 (cadherin 8), CDH9 (T1-cadherin), CDH10 (T2-cadherin), CDH11 (OB-cadherin), CDH12 (N-cadherin 2), CDH13 (H-cadherin), CDH15 (M-cadherin), CDH16 (KSP-cadherin), CDH17 (LI-cadherin), CDH18 (cadherin 18), CDH20 (cadherin 20), PCDHGA12 (CDH21), CDH22 CDH23
CDH24 DCHS1 (CDH19, or CDH25), CDH26 DCHS2 (CDH27), CDHR3 (CDH28), and CDHR4 (CDH29).
Srisailapathy et al., "Nonsyndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23
and TMIE," PLoS ONE, vol.
[15.] Sliwinska-Kowalska M., Noben-Trauth K., Pawelczyk M., Kowalski T.J.: Single nucleotide polymorphisms in the Cadherin 23 (CDH23
) gene in Polish workers exposed to industrial noise.
At present, ten genes have been associated with USH, including MYO7A, USH1C, CDH23
, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN-1 [3-15].
In the present study, the smoking-related methylat ion changes to RUNX3, IL6R, PTAFR, and ANKRD11 (cardiovascular-related genes) and CEP135 and CDH23
(cancer-related genes) corresponded to increased gene expression.
Many homozygous and heterozygous mice, including Cdh23
, Pmca2 , Sodl , Gpxl , Trpv4 , and Hsfl [63, 64] knockout mice, have been shown to be more sensitive to noise-induced hearing loss than the other wild-type strains.
The patients, who carried compound heterozygous mutations in CDH23
(NT-1-1, NT-2-1, and NT-3-1) and MYO7A (NT-5-1), two genes associated with both nonsyndromic deafness and Usher syndrome type 1, did not show any degenerative symptoms of retinitis pigmentosa.