CDH23

CDH23

Notation for the Usher type 1D syndrome gene.

CDH23

A gene on chromosome 10q22.1 that encodes a calcium-dependent cell adhesion protein (cadherin) required for normal hearing, and which is part of the functional network formed with USH1C, USH1G and MYO7A which mediates mechanotransduction in cochlear hair cells. CDH23 is involved in establishing and/or maintaining the proper organisation of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development.

Molecular pathology
Defects of CDH23 cause Usher syndrome, types 1D and 1D/F, and deafness autosomal recessive type 12.
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References in periodicals archive ?
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.
De ellos, han sido identificados nueve genes responsables: MYO7A para USH1B, USH1C para USH1C, CDH23 para US-H1D, PCDH15 para USH1F, SANS para USH1G, y CIB2 para USH1J (8-13); USH2A para USH2A, VLGRlb para USH2C, WHRNpara USH2D y US-H3A para USH3 (14-18).
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 [58], Pmca2 [59], Sodl [60], Gpxl [61], Trpv4 [62], 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.