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Usher syndrome type 1B(USH1B)

MedGen UID:
419358
•Concept ID:
C2931206
•
Disease or Syndrome
Synonyms: USH1B; Usher syndrome, type IB
 
Related gene: USH1C
 
Monarch Initiative: MONDO:0700087

Definition

Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
Phenotypes in defined genotypes including siblings with Usher syndrome.
Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S
Ophthalmic Genet 2011 Jun;32(2):65-74. Epub 2010 Dec 21 doi: 10.3109/13816810.2010.536064. PMID: 21174530

Recent clinical studies

Etiology

Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon.
Anzalone CL, Ho ML, Patel NS, Schimmenti LA, DeJong MD, Carlson ML
Otol Neurotol 2017 Jun;38(5):e21-e25. doi: 10.1097/MAO.0000000000001392. PMID: 28346292
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ
Hum Genet 2005 Mar;116(4):292-9. Epub 2005 Jan 20 doi: 10.1007/s00439-004-1227-2. PMID: 15660226
Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K
Laryngoscope 2002 Feb;112(2):292-7. doi: 10.1097/00005537-200202000-00017. PMID: 11889386
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.
Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R
Clin Genet 1998 Aug;54(2):155-8. doi: 10.1111/j.1399-0004.1998.tb03720.x. PMID: 9761396
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B
Am J Hum Genet 1997 Oct;61(4):813-21. doi: 10.1086/514899. PMID: 9382091Free PMC Article

Diagnosis

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X
J Clin Lab Anal 2022 Nov;36(11):e24708. Epub 2022 Sep 26 doi: 10.1002/jcla.24708. PMID: 36164746Free PMC Article
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
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Mol Vis 2007 Oct 2;13:1862-5. PMID: 17960123
Genetic causes of hearing loss.
Cremers FP
Curr Opin Neurol 1998 Feb;11(1):11-6. doi: 10.1097/00019052-199802000-00003. PMID: 9484611

Therapy

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
Wang H, Wan Y, Yang Y, Li H, Mao L, Gao S, Xu J, Wang J
BMC Med Genet 2019 Jul 25;20(1):130. doi: 10.1186/s12881-019-0850-7. PMID: 31345173Free PMC Article
EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat.
Zallocchi M, Binley K, Lad Y, Ellis S, Widdowson P, Iqball S, Scripps V, Kelleher M, Loader J, Miskin J, Peng YW, Wang WM, Cheung L, Delimont D, Mitrophanous KA, Cosgrove D
PLoS One 2014;9(4):e94272. Epub 2014 Apr 4 doi: 10.1371/journal.pone.0094272. PMID: 24705452Free PMC Article
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.
Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS
Gene Ther 2007 Apr;14(7):584-94. Epub 2007 Feb 1 doi: 10.1038/sj.gt.3302897. PMID: 17268537Free PMC Article

Prognosis

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
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ
Invest Ophthalmol Vis Sci 2009 Apr;50(4):1886-94. Epub 2008 Dec 13 doi: 10.1167/iovs.08-3122. PMID: 19074810
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Mol Vis 2007 Oct 2;13:1862-5. PMID: 17960123
Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.
Hasson T, Walsh J, Cable J, Mooseker MS, Brown SD, Steel KP
Cell Motil Cytoskeleton 1997;37(2):127-38. doi: 10.1002/(SICI)1097-0169(1997)37:2<127::AID-CM5>3.0.CO;2-5. PMID: 9186010

Clinical prediction guides

Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D
Ophthalmic Genet 2018 Dec;39(6):706-713. Epub 2018 Oct 25 doi: 10.1080/13816810.2018.1532527. PMID: 30358468
Structure and Regulation of the Movement of Human Myosin VIIA.
Sakai T, Jung HS, Sato O, Yamada MD, You DJ, Ikebe R, Ikebe M
J Biol Chem 2015 Jul 10;290(28):17587-98. Epub 2015 May 22 doi: 10.1074/jbc.M114.599365. PMID: 26001786Free 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
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.
Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
Mol Vis 2007 Oct 2;13:1862-5. PMID: 17960123
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ
Hum Genet 2005 Mar;116(4):292-9. Epub 2005 Jan 20 doi: 10.1007/s00439-004-1227-2. PMID: 15660226

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