Usher′s syndrome: Can primarily be a primary ciliary disorder?

Kulkarni, Swapnil; Karkhanis, Vinaya S; Joshi, Jyotsna M

doi:10.4103/0970-2113.135791

Cited by 2 publications

(2 citation statements)

References 2 publications

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“…Most of the USH proteins have been localized at or around ciliary photoreceptor structures in the retina (as well as other ciliated tissues, such as olfactory epithelium)14215253. On the other hand, a considerable body of evidence indicates that olfactory dysfunction might well be associated with ciliary disorders1825275354. Proteins related to the USH have a periciliary localization and play a role in ciliogenesis and ciliary maintenance of olfactory cilia55.…”

Section: Discussionmentioning

confidence: 99%

“…Data linking USH to a ciliopathy is grounded on histopathological and molecular studies 24 27 . Most of the USH proteins have been localized at or around ciliary photoreceptor structures in the retina (as well as other ciliated tissues, such as olfactory epithelium) 14 21 52 53 . On the other hand, a considerable body of evidence indicates that olfactory dysfunction might well be associated with ciliary disorders 18 25 27 53 54 .…”

Section: Discussionmentioning

confidence: 99%

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Accelerated age-related olfactory decline among type 1 Usher patients

Ribeiro

Oliveiros

Pereira

et al. 2016

Sci Rep

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Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported. Recent evidence indicates that USH is likely to belong to an emerging class of sensory ciliopathies. Olfaction has recently been implicated in ciliopathies, but the scarce literature about olfaction in USH show conflicting results. We aim to evaluate olfactory impairment as a possible clinical manifestation of USH. Prospective clinical study that included 65 patients with USH and 65 normal age-gender-smoking-habits pair matched subjects. A cross culturally validated version of the Sniffin’ Sticks olfaction test was used. Young patients with USH have significantly better olfactory scores than healthy controls. We observe that USH type 1 have a faster ageing olfactory decrease than what happens in healthy subjects, leading to significantly lower olfactory scores in older USH1 patients. Moreover, USH type 1 patients showed significantly higher olfactory scores than USH type 2, what can help distinguishing them. Olfaction represents an attractive tool for USH type classification and pre diagnostic screening due to the low cost and non-invasive nature of the testing. Olfactory dysfunction should be considered among the spectrum of clinical manifestations of Usher syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Accelerated age-related olfactory decline among type 1 Usher patients

Ribeiro

Oliveiros

Pereira

et al. 2016

Sci Rep

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Phage Immunoprecipitation‐Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease

Upadhyay,

Yoon,

Vazquez

et al. 2024

ACR Open Rheumatology

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ObjectiveInterstitial lung diseases (ILDs) are a heterogeneous group of disorders that can develop in patients with connective tissue diseases. Establishing autoimmunity in ILD impacts prognosis and treatment. Patients with ILD are screened for autoimmunity by measuring antinuclear autoantibodies, rheumatoid factors, and other nonspecific tests. However, this approach may miss autoimmunity that manifests as autoantibodies to tissue antigens not previously defined in ILD.MethodsWe use Phage Immunoprecipitation‐Sequencing (PhIP‐Seq) to conduct an autoantibody discovery screen of patients with ILD and controls. We screened for novel autoantigen candidates using PhIP‐Seq. We next developed a radio‐labeled binding assay and validated the leading candidate in 398 patients with ILD recruited from two academic medical centers and 138 blood bank individuals that formed our reference cohort.ResultsPhIP‐Seq identified 17 novel autoreactive targets, and machine learning classifiers derived from these targets discriminated ILD serum from controls. Among the 17 candidates, we validated CDHR5 and found CDHR5 autoantibodies in patients with rheumatologic disorders and importantly, patients not previously diagnosed with autoimmunity. Using survival and transplant free–survival data available from one of the two centers, patients with CDHR5 autoantibodies showed worse survival compared with other patients with connective tissue disease ILD.ConclusionWe used PhIP‐Seq to define a novel CDHR5 autoantibody in a subset of select patients with ILD. Our data complement a recent study showing polymorphisms in the CDHR5‐IRF7 gene locus strongly associated with titer of anticentromere antibodies in systemic sclerosis, creating a growing body of evidence suggesting a link between CDHR5 and autoimmunity.

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Usher′s syndrome: Can primarily be a primary ciliary disorder?

Cited by 2 publications

References 2 publications

Accelerated age-related olfactory decline among type 1 Usher patients

Accelerated age-related olfactory decline among type 1 Usher patients

Phage Immunoprecipitation‐Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease

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