A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
A novel highly frequent singlenucleotide polymorphism site of cadherin 23 in clear cell renal cell carcinoma with sarcomatoid differentiation based on whole exome sequencing.
Crystal structures showing 18 CDH23 extracellular cadherin (EC) repeats including the most and least conserved a fragment carrying disease mutations and EC repeats with non-canonical Ca(2+)-binding motif sequences and unusual secondary structure. Deafness mutations' effects on stability and affinity for Ca(2+). Additionally contiguous CDH23 EC repeats reveals helicity and potential parallel dimerization faces.
data suggest that CDH23-C is a CAMSAP3/Marshalin-binding protein that can modify MT networks indirectly through its interaction with CAMSAP3/Marshalin.
A new diagnosis of sector retinitis pigmentosa was found to have two novel compound heterozygous mutations in CDH23 including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation.
Four (3.1 %) of 128 children carried two CDH23 mutant alleles and SLC26A4 and GJB2 accounted for 18.0 and 17.2 % respectively and showed profound nonsyndromic sensorineural hearing loss with minimal residual hearing.
The results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss
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