The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Khalaileh, Ayat; Abu-Diab, Alaa; Ben-Yosef, Tamar; Raas‐Rothschild, Annick; Lerer, Israela; AlSwaiti, Yahya; Chowers, Itay; Banin, Eyal; Sharon, Dror; Khateb, Samer

doi:10.1167/iovs.17-22817

Cited by 9 publications

(6 citation statements)

References 60 publications

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“…The nine USH genes discussed above underlie the vast majority of molecularly diagnosed cases (24,(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38). However, current methods fail to yield a definitive molecular diagnosis in some USH patients, and bi-allelic pathogenic variants are generally discovered in less than 80% of patients using targeted or whole-exome sequencing methods (39)(40)(41)(42)(43). Utilizing a combination of methods or a more comprehensive approach to genetic testing may increase the detection of bi- allelic pathogenic variants to above 90% (44,45).…”

Section: Genetic Heterogeneitymentioning

confidence: 99%

Atypical and ultra-rare Usher syndrome: a review

Hufnagel

Friedman

Turriff

et al. 2020

Ophthalmic Genetics

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Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to "atypical" Usher syndrome presentations. This manuscript reviews the molecular etiology of Usher syndrome, highlighting rare presentations and molecular causes. Reports of "atypical" disease are summarized noting the wide discrepancy in the spectrum of phenotypic deviations from the classical presentation. Guidelines for establishing a clear nomenclature system are suggested.

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Section: Genetic Heterogeneitymentioning

confidence: 99%

Atypical and ultra-rare Usher syndrome: a review

Hufnagel

Friedman

Turriff

et al. 2020

Ophthalmic Genetics

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“…Indeed, our study involved patients of nearly the same age. This finding was not reported in the description of the Finnish or Ashkenazi Jewish cohorts 25 , 26 , 29 or evident on published fundus photographs. 30 , 39…”

Section: Discussionmentioning

confidence: 48%

“…USH3A is also more common (about 10% of the Usher patients) in Israeli and Palestinian populations. 26 A founder pathogenic variant of CLRN1 is also reported in Ashkenazi Jews (c.144T>G, p.(Asn48Lys)). 27 , 28 …”

mentioning

confidence: 93%

Retinal Phenotype of Patients withCLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Smirnov

Nassisi

Mohand‐Saïd

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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“…USH3 is the least common of all Usher types, though it is found more frequently in Ashkenazi Jewish and Finnish populations [65][66][67][68]. In many of these cases, founder mutations account for the increased prevalence of a specific Usher syndrome type.…”

Section: Genetics Of Usher Syndromementioning

confidence: 99%

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy

Joya

Colbert

Tang

et al. 2021

IJMS

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Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations. Usher syndrome is a syndromic form of genetic hearing loss that is accompanied by impaired vision associated with retinitis pigmentosa and, in many cases, vestibular dysfunction. It is the most common cause of deaf-blindness. Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. Here we review how the etiologies of Usher-related hearing loss make it a good candidate for gene therapy and discuss how various forms of gene therapy could be applied to Usher-related hearing loss.

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The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Cited by 9 publications

References 60 publications

Atypical and ultra-rare Usher syndrome: a review

Atypical and ultra-rare Usher syndrome: a review

Retinal Phenotype of Patients withCLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy

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