Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Usher syndrome (USH) is the most prevalent cause of the human genetic deafness and blindness. USH type II (USH2) is the most common form of USH, and USH2A is the major pathogenic gene for USH2. For expanding the ...
Source: BMC Ophthalmology - Category: Opthalmology Authors: Tags: Research article Source Type: research

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Recent research has revealed that an adhesion complex based on cadherins and the motor protein myosin-7b (MYO7B) links the tips of intestinal microvilli. Choi et al. now report that a largely uncharacterized protein known as calmodulin-like protein 4 (CALML4) is a component of this adhesion complex and functions as a light chain for myosin-7b. Because the intermicrovillar adhesion complex is homologous to the myosin-7a (MYO7A)-based Usher syndrome complex and Choi et al. also report that CALML4 can bind to myosin-7a, this work also has important implications for research on myosin-7a and hereditary deaf-blindness.
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Editors ' Picks Highlights Source Type: research
Conclusions: This research provides an overview of symptoms experienced by patients with USH1 and highlights the dramatic impact these have on patients' lives, allowing the identification of concepts of importance when evaluating therapeutic treatments in development for RP. PMID: 32367747 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Conclusions: Providing a correct diagnosis for patients with visual impairment and hearing loss can be challenging for clinicians and their patients, but it can greatly improve clinical care and outcomes. We recommend an algorithm that includes multidisciplinary collaboration, careful clinical evaluation, strategic molecular testing, and consideration of a broad differential diagnosis. PMID: 32281467 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Conclusion: Genetic testing results in individuals suspected to have an USH2A-related disorder have the potential to facilitate personalized audiological surveillance and rehabilitation pathways.
Source: Otology and Neurotology - Category: ENT & OMF Tags: SENSORINEURAL HEARING LOSS AND TINNITUS Source Type: research
We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-lateral links, that stereocilin (STRC) and protein tyrosine phosphatase (PTPRQ) are associated with top and shaft connectors, respectively, and that USH2A and ADGRV1 are associated with the ankle links. Whereas tip links are required for mechanoelectrical transduction, all link proteins play key roles in the normal development and/or the maintenance of hair bundle structure and function. Recent crystallographic and single-particle analyses of PCDH15 and CDH23 provide insight as to how t...
Source: Cold Spring Harbor perspectives in medicine - Category: Research Authors: Tags: Function and Dysfunction of the Cochlea PERSPECTIVES Source Type: research
A 45-year-old woman with Usher syndrome, associated congenital deafness, progressive blindness due to retinitis pigmentosa, and latent autoimmune diabetes presented to the emergency department with malaise, dizziness, and pelvic pain following removal of an intrauterine device. A posterior vaginal wall mass was found on examination. Laboratory values demonstrated anemia, thrombocytopenia, and an elevated white blood cell count, raising concern for infection and potential onset of diabetic ketoacidosis. This prompted a peripheral blood smear review, which showed 60% monocytic blasts. A subsequent vaginal mass biopsy showed ...
Source: Pathology Case Reviews - Category: Pathology Tags: Case Reviews Source Type: research
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. Mol Med Rep. 2019 Oct 07;: Authors: Wang L, Wei B, Fu X, Wang Y, Sui Y, Ma J, Gong X, Hao J, Xing S Abstract Usher syndrome is the most common condition of combined blindness and deafness and is classified into three types (USH1‑USH3). USH2 is the most commonly diagnosed of all Usher syndrome cases. There are three identified proteins (usherin, GPR98 and whirlin) that form the USH2 complex. Defects in any of these proteins may cause failure in the formation of the USH2 complex, which is ...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communi...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
ier R Abstract BACKGROUND: In Usher syndrome, deafness is congenital and blindness is acquired. Therefore, the progressive loss of one of the two senses forces individuals with this syndrome to reorganize their everyday tasks and relationships, creating new strategies to communicate, access information, and move within a given space. This reorganization can interfere with the subjects' capacity to build a good quality of life. METHODS: We conducted a scoping review of both peer-reviewed and gray literature, to identify existing evidence of the role of psychosocial determinants on the quality of life of people...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
(Sechenov University) A team of scientists from Sechenov First Moscow State Medical University (MSMU) together with their colleagues from leading scientific centers of Moscow and India described a number of genetic mutations causing Usher syndrome (inherited deaf-blindness). They found previously unstudied unique mutations in investigated DNA regions. The results of the study were published in the Ophthalmic Genetics journal.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
More News: Audiology | Blindness | China Health | Deafness | Genetics | Opthalmology | Usher Syndrome