ArticlePloS one2014
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.The Journal of international medical research · 2025Article
- Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.Investigative ophthalmology & visual science · 2025Article
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Scientific reports · 2024Article
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.International journal of ophthalmology · 2022Article
- Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.Acta ophthalmologica · 2021Article
- A natural knockout of the MYO7A gene leads to pre-weaning mortality in pigs.Animal genetics · 2021Article
- Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.Journal of clinical laboratory analysis · 2020Article
- Structural modeling, mutation analysis, andComputational and structural biotechnology journal · 2020Article
- Targeted next-generation sequencing extends the mutational spectrums forMolecular vision · 2019Article
- The genetic dissection ofMolecular vision · 2018Article
- Genetic screening revealed usher syndrome in a paediatric Chinese patient.Hearing, balance and communication · 2017Article
- Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.PloS one · 2017Article
- Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.Scientific reports · 2016Article
- Article
- Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Molecular vision · 2016Article
- Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.Journal of translational medicine · 2015Article
- Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Scientific reports · 2015Article
- Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Molecular genetics and genomics : MGG · 2015Article
- Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.International journal of ophthalmology · 2015Article
- Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Orphanet journal of rare diseases · 2014Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases. Using targeted next-generation sequencing (NGS) approach, three new alleles and one known mutation in MYO7A gene were identified in the three families. In two families with USH type 1, novel homozygous frameshift variant p.Pro194Hisfs*13 and recurrent missense variant p.Thr165Met were demonstrated as the causative mutations respectively. Crystal structural analysis denoted that p.Thr165Met would very likely change the tertiary structure of the protein encoded by MYO7A. In another family affected with USH type 2, novel biallelic mutations in MYO7A, c.[1343+1G>A];[2837T>G] or p.[?];[Met946Arg], were identified with clinical significance. Because MYO7A, to our knowledge, has rarely been correlated with USH type 2, our findings therefore reveal distinguished clinical phenotypes associated with MYO7A. We also conclude that targeted NGS is an effective approach for genetic diagnosis for USH, which can further provide better understanding of genotype-phenotype relationship of the disease.
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