ArticleAmerican journal of ophthalmology case reports2020
Identification of a novel homozygous
Article in American journal of ophthalmology case reports, 2020. 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, 34 citations in OpenAlex.
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Genome research · 2025Article
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Molecular vision · 2025Article
- Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.Clinical genetics · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.Scientific reports · 2024Article
- A HomozygousGenes · 2023Article
- Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Investigative ophthalmology & visual science · 2023Article
- Article
- Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.Human genetics · 2022Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Usher Syndrome.Audiology research · 2022Review
- Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine.Frontiers in medicine · 2022Article
- Sulfation Pathways During Neurodevelopment.Frontiers in molecular biosciences · 2022Review
- Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.Ophthalmic genetics · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.Ophthalmic genetics · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeUsher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of the pathology have been classically established, although an increasing number of rare cases are being accumulated as atypical forms. The present work aims to discover the genetic cause in a patient with atypical Usher syndrome, by performing whole exome sequencing in several family members. OBSERVATIONS: The obtained results identified a novel homozygous missense mutation (p.Asp44Asn) in the CONCLUSIONS AND IMPORTANCE: These findings support the identification of the second disease mutation in this gene and a new evidence of the implication of
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