![]() Usher syndrome is heterogeneous, both clinically and genetically, and has been classified into three distinct clinical subtypes-USH1, USH2, and USH3-based on symptom severity, progression, and age at onset. 2006 Mathur and Yang 2015 Nisenbaum et al. It displays autosomal recessive inheritance and is clinically characterized by the combination of sensorineural hearing loss (SNHL) and rod–cone dystrophy or retinitis pigmentosa (RP), and variable vestibular dysfunction (Castiglione and Moller 2022 El-Amraoui and Petit 2014 Geleoc and El-Amraoui 2020 Kremer et al. This syndrome was first described by Albrecht von Graefe in 1858, but was named after Charles Usher, a Scottish ophthalmologist, who was the first to report its hereditary nature (Bonnet and El-Amraoui 2012 El-Amraoui and Petit 2005 Friedman et al. Usher syndrome (USH) is the most common hereditary form of deaf–blindness, with a global prevalence of 4 to 17 cases per 100,000 individuals it accounts for more than half of all hereditary cases of deaf–blindness and 3–6% of all cases of childhood hearing loss (Hope et al. The advent of precision medicine calls for a clear and more precise diagnosis of Usher syndrome, exploiting all the existing data to develop a combined clinical/genetic/network/functional classification for Usher syndrome. In recent years, a wealth of information has been obtained concerning the properties of the Usher proteins, related molecular networks, potential genotype–phenotype correlations, and the pathogenic mechanisms underlying the impairment or loss of hearing, balance and vision. A consensus on combined criteria for Usher syndrome is crucial for the development of accurate diagnosis and to improve patient management. ![]() ![]() Based on the co-occurrence of hearing and vision deficits, the list of USH genes has been extended to few other genes, but with limited supporting information. ![]() Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN for USH2, and CLRN1 for USH3. The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220). Turnaround time is approximately 3 months.Ĩ - 10 cc. Next Generation Sequencing and Read Depth Analysis (for deletion/duplication analysis).
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