Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)

Researchers in the Netherlands studied families with mutations in the CDH23 gene by testing their vision, hearing, and vestibular function to characterize the key differences between Usher syndrome type 1D (USH1D) and DFNB12, a nonsyndromic hearing loss disorder also due to mutations in the CDH23 gene.  The researchers found that depending upon how the gene is mutated, the resulting disorder and severity varies. 

What this means for Usher syndrome: Understanding the exact genetic mutation and following families with different mutations in the same gene to learn how they present differently is crucial to predict the natural progression of Usher syndrome type 1D.

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