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Usher Syndrome, Type Ib(USH1B)

MedGen UID:
341270
•Concept ID:
C1848638
•
Disease or Syndrome
Synonyms: USH1B; USHER SYNDROME, TYPE IB
 
OMIM®: 276900; 276903

Recent clinical studies

Diagnosis

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium
Sci Rep 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. PMID: 38594301Free PMC Article
Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report.
Zhang Y, Guo X, Hao L, Tian M, Ma Y, Tang Y
J Int Med Res 2023 Dec;51(12):3000605231218924. doi: 10.1177/03000605231218924. PMID: 38141656Free PMC Article
Optimization of Capillary-Based Western Blotting for MYO7A.
Calabro KR, Boye SL, Boye SE
Adv Exp Med Biol 2023;1415:125-130. doi: 10.1007/978-3-031-27681-1_19. PMID: 37440024
CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B.
Ryu J, Statz JP, Chan W, Burch FC, Brigande JV, Kempton B, Porsov EV, Renner L, McGill T, Burwitz BJ, Hanna CB, Neuringer M, Hennebold JD
Sci Rep 2022 Jun 16;12(1):10036. doi: 10.1038/s41598-022-13689-x. PMID: 35710827Free PMC Article
Carriers of the Usher syndrome type IB: is audiometric identification possible?
Wagenaar M, Snik AF, Kimberling WJ, Cremers CW
Am J Otol 1996 Nov;17(6):853-8. PMID: 8915413

Therapy

Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report.
Boye SE, Durham T, Laster A, Gelfman CM, Sahel JA
Transl Vis Sci Technol 2023 Feb 1;12(2):2. doi: 10.1167/tvst.12.2.2. PMID: 36723965Free PMC Article
Effective delivery of large genes to the retina by dual AAV vectors.
Trapani I, Colella P, Sommella A, Iodice C, Cesi G, de Simone S, Marrocco E, Rossi S, Giunti M, Palfi A, Farrar GJ, Polishchuk R, Auricchio A
EMBO Mol Med 2014 Feb;6(2):194-211. Epub 2013 Dec 15 doi: 10.1002/emmm.201302948. PMID: 24150896Free PMC Article

Prognosis

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ
Genes (Basel) 2021 Feb 15;12(2) doi: 10.3390/genes12020274. PMID: 33671976Free PMC Article
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A
PLoS One 2017;12(5):e0176516. Epub 2017 May 4 doi: 10.1371/journal.pone.0176516. PMID: 28472130Free PMC Article
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS
Invest Ophthalmol Vis Sci 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. PMID: 21873662Free PMC Article
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D
Hum Mol Genet 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. PMID: 9002678

Clinical prediction guides

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ
Genes (Basel) 2021 Feb 15;12(2) doi: 10.3390/genes12020274. PMID: 33671976Free PMC Article
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A
PLoS One 2017;12(5):e0176516. Epub 2017 May 4 doi: 10.1371/journal.pone.0176516. PMID: 28472130Free PMC Article
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors.
Colella P, Trapani I, Cesi G, Sommella A, Manfredi A, Puppo A, Iodice C, Rossi S, Simonelli F, Giunti M, Bacci ML, Auricchio A
Gene Ther 2014 Apr;21(4):450-6. Epub 2014 Feb 27 doi: 10.1038/gt.2014.8. PMID: 24572793
The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, Shorte S, Wolfrum U, Petit C, El-Amraoui A
Hum Mol Genet 2013 Sep 15;22(18):3773-88. Epub 2013 May 23 doi: 10.1093/hmg/ddt228. PMID: 23704327
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D
Hum Mol Genet 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. PMID: 9002678

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