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Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

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Ciliopathy: Usher Syndrome.

Benjamin Kuang-Chien Chiang¹, Stephen H Tsang², Alicia R P Aycinena³

¹School of Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.

Advances in Experimental Medicine and Biology

|July 30, 2025

Summary

Nine gene loci, identified as USH1B through USH1K, are currently recognized. These loci are associated with Usher syndrome, a genetic disorder affecting hearing and vision.

Keywords:

Ciliopathy Retinitis pigmentosa Usher syndrome

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Area of Science:

Genetics
Ophthalmology
Audiology

Background:

Usher syndrome is a significant cause of hereditary deaf-blindness.
Genetic heterogeneity underlies Usher syndrome, necessitating precise locus identification.

Purpose of the Study:

To delineate the known genetic loci implicated in Usher syndrome type 1.
To provide a clear enumeration of the identified Usher syndrome type 1 (USH1) loci.

Main Methods:

Literature review of genetic studies on Usher syndrome.
Analysis of established Usher syndrome gene nomenclature and mapping data.

Main Results:

Nine specific loci, designated USH1B to USH1K, have been identified.
The loci USH1A and USH1I are not currently recognized in the established Usher syndrome type 1 classification.

Conclusions:

The current genetic landscape of Usher syndrome type 1 comprises nine distinct loci.
Accurate locus identification is crucial for genetic counseling and therapeutic development for Usher syndrome.