type 2A Usher syndrome

A type of Usher Syndrome characterized by moderate to severe sensorineural hearing loss with normal vestibular response and progressive retinitis pigmentosa. It is the most common form of Usher Syndrome, accounting for 70% of cases and is associated with mutations in the USH2A and PDZD7 genes. OMIM: 276901

Also Known As:

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deaf-Blind Disorders

Experts

1.	Bhattacharya, Gautam: 3 articles (08/2005 - 01/2004)
2.	Cosgrove, Dominic: 3 articles (08/2005 - 01/2004)
3.	Hartel, Bas P: 2 articles (01/2017 - 05/2016)
4.	Pennings, Ronald J E: 2 articles (01/2017 - 05/2016)
5.	Kimberling, William J: 2 articles (01/2004 - 08/2002)
6.	Cheng, Jingliang: 1 article (01/2020)
7.	Fu, Jiewen: 1 article (01/2020)
8.	Fu, Junjiang: 1 article (01/2020)
9.	Lv, Hongbin: 1 article (01/2020)
10.	Shen, Shiyi: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2A Usher syndrome:

1.	Proteins (Proteins, Gene)FDA Link 12/15/2005 - "Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells." 06/12/1998 - "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa." 01/15/2004 - "Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder. " 01/01/2011 - "In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. " 08/01/2002 - "We recently identified the human Usher syndrome type IIA gene (USH2A) on chromosome 1q41, which encodes a protein possessing 10 laminin epidermal growth factor and four fibronectin type 3 domains, both commonly observed in extracellular matrix proteins. "
2.	Peptides (Polypeptides)IBA 08/30/2005 - "Recombinant LE domain-specific peptides were engineered that contained single amino acid substitutions corresponding to missense mutations found in humans with Usher syndrome type IIa. " 01/15/2004 - "However, synonymous fusion peptides with single amino acid substitutions resulting from missense mutations that were known to cause Usher syndrome type IIa in humans, failed to compete. "
3.	DNA (Deoxyribonucleic Acid)IBA 07/01/2001 - "Haplotype analysis was performed on DNA samples from 116 unrelated patients with Usher syndrome type IIa; the patients were from 14 countries and represented 148 2299delG alleles. " 01/01/2011 - "In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. "
4.	RNA Splice SitesIBA 05/01/2016 - "We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. "
5.	Protein Isoforms (Isoforms)IBA 03/01/2008 - "Usher syndrome type IIa, the most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons, respectively. "
6.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2016 - "We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. "
7.	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 06/15/1998 - "Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41."
8.	Extracellular Matrix ProteinsIBA 08/01/2002 - "We recently identified the human Usher syndrome type IIA gene (USH2A) on chromosome 1q41, which encodes a protein possessing 10 laminin epidermal growth factor and four fibronectin type 3 domains, both commonly observed in extracellular matrix proteins. "
9.	Messenger RNA (mRNA)IBA 08/01/2002 - "Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease."
10.	RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA 07/01/2004 - "Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa."

Therapies and Procedures

1.	Cochlear Implantation 01/01/2017 - "Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life."
2.	Therapeutics 01/01/2020 - "In summary, our discoveries can help further the understanding of the molecular pathogenesis of Usher syndrome type IIA to advance the prevention, diagnosis and therapy for this disorder."
3.	Hearing Aids (Hearing Aid) 08/01/2017 - "Patients with Usher syndrome type IIa prefer a linear amplification over nonlinear amplification when fitted with novel hearing aids. " 08/01/2017 - "Most patients with Usher syndrome type IIa start using hearing aids from a young age. " 08/01/2017 - "Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa."