ArticleAmerican journal of human genetics1996
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 109 citations in OpenAlex.
- Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.Omics : a journal of integrative biology · 2022Pooled it
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.BMC ophthalmology · 2025Article
- Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.Experimental animals · 2025Article
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation inWorld journal of clinical cases · 2023Article
- CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B.Scientific reports · 2022Article
- The Local Environment of Loop Switch 1 Modulates the Rate of ATP-Induced Dissociation of Human Cardiac Actomyosin.International journal of molecular sciences · 2022Article
- Proposed therapy, developed in aeLife · 2021Article
- Advances in genome editing for genetic hearing loss.Advanced drug delivery reviews · 2021Review
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step.The Journal of biological chemistry · 2018Article
- Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Nature biotechnology · 2017Article
- Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.Current biology : CB · 2016Article
- Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Human genetics · 2016Article
- Article
- Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.Investigative ophthalmology & visual science · 2015Review
- Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Molecular genetics & genomic medicine · 2014Article
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Journal of medical genetics · 2012Article
- Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.PloS one · 2012Article
- Article
- Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Orphanet journal of rare diseases · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16.
Indexed as
Identifiers
8900236PMC1914835W1504262696What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.