Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Apr;141(3-4):759-783.
doi: 10.1007/s00439-022-02446-9. Epub 2022 Mar 23.

Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches

Azmi Marouf  1 , Benjamin Johnson  1 , Kumar N Alagramam  2   3   4
Affiliations
Review

Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches

Azmi Marouf et al. Hum Genet. 2022 Apr.

Abstract

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive pigmentary retinopathy, and vestibular dysfunction. The degree and onset of hearing loss vary among subtypes I, II, and III, while blindness often occurs in the second to fourth decades of life. Usher type III (USH3), characterized by postlingual progressive sensorineural hearing loss, varying levels of vestibular dysfunction, and varying degrees of visual impairment, typically manifests in the first to second decades of life. While USH3 is rare, it is highly prevalent in certain populations. RP61, USH3, and USH3A symbolize the same disorder, with the latter symbol used more frequently in recent literature. This review focuses on the clinical features, epidemiology, molecular genetics, treatment, and research advances for sensory deficits in USH3A.

PubMed Disclaimer

References

    1. Abbott JA, Guth E, Kim C, Regan C, Siu VM, Rupar CA, Demeler B, Francklyn CS, Robey-Bond SM (2017) The usher syndrome type IIIB Histidyl-tRNA synthetase mutation confers temperature sensitivity. Biochemistry 56:3619–3631. https://doi.org/10.1021/acs.biochem.7b00114 - DOI - PubMed
    1. Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 10:339–350. https://doi.org/10.1038/sj.ejhg.5200831 - DOI - PubMed
    1. Adjei GO, Kurtzhals JA, Rodrigues OP, Alifrangis M, Hoegberg LC, Kitcher ED, Badoe EV, Lamptey R, Goka BQ (2008) Amodiaquine-artesunate vs artemether-lumefantrine for uncomplicated malaria in Ghanaian children: a randomized efficacy and safety trial with one year follow-up. Malar J 7:127. https://doi.org/10.1186/1475-2875-7-127 - DOI - PubMed - PMC
    1. Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R (2011) A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. Ophthalmic Genet 32:245–249. https://doi.org/10.3109/13816810.2011.587083 - DOI - PubMed
    1. Alagramam KN, Gopal SR, Geng R, Chen DH, Nemet I, Lee R, Tian G, Miyagi M, Malagu KF, Lock CJ, Esmieu WR, Owens AP, Lindsay NA, Ouwehand K, Albertus F, Fischer DF, Bürli RW, MacLeod AM, Harte WE, Palczewski K, Imanishi Y (2016) A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. Nat Chem Biol 12:444–451. https://doi.org/10.1038/nchembio.2069 - DOI - PubMed - PMC

LinkOut - more resources