Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02324-w
Abstract: Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from retinitis pigmentosa (RP), occasionally accompanied by an altered vestibular… read more here.
Keywords: genetics; syndrome type; therapeutic developments; usher syndrome ... See more keywords
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.11.020
Abstract: The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain… read more here.
Keywords: whole exome; exome sequencing; usher syndrome; identification two ... See more keywords
A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan
Sign Up to like & getrecommendations! Published in 2021 at "Acta Oto-Laryngologica"
DOI: 10.1080/00016489.2021.1966500
Abstract: Abstract Background Usher syndrome (USH) typically leads to deaf-blindness, requiring the provision of extensive education and rehabilitation services. Therefore, investigating the prevalence is crucial to requests for proper government support for USH patients. Objective The… read more here.
Keywords: genetic testing; nationwide epidemiologic; japan; usher syndrome ... See more keywords
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2018.1479430
Abstract: ABSTRACT Background:To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. Materials and Methods: Four members received ophthalmic and otologic tests to ascertain the clinical… read more here.
Keywords: chinese family; syndrome type; type iic; family ... See more keywords
Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2020.1790616
Abstract: ABSTRACT Background To report the case of a patient with two distinct genetic systemic diseases – pseudoxanthoma elasticum (PXE) and Usher syndrome – confirmed by genetic testing. Materials and Methods Single Retrospective Case Report Results… read more here.
Keywords: genetic testing; single patient; hickam dictum; pseudoxanthoma elasticum ... See more keywords
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2021.1946704
Abstract: Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.Chart review evaluating demographic, clinical, imaging, and… read more here.
Keywords: phenotype; disease causing; clinical phenotype; atypical usher ... See more keywords
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006088
Abstract: Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often assumed… read more here.
Keywords: usher syndrome; deaf; vision; genetic deaf ... See more keywords
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2019-315786
Abstract: Aims To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype–phenotype… read more here.
Keywords: syndrome type; usher syndrome; non syndromic; chinese patients ... See more keywords
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains
Sign Up to like & getrecommendations! Published in 2018 at "Cellular Physiology and Biochemistry"
DOI: 10.1159/000491068
Abstract: Background/Aims: Our laboratory discovered a Kunming mouse with enormous electroretinogram (ERG) defects. Its auditory brainstem response (ABR) threshold was significantly elevated and closely resembled the features of Usher syndrome (USH). This study sought to cross… read more here.
Keywords: recombinant inbred; ush mice; usher syndrome; inbred strains ... See more keywords
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0600-x
Abstract: BackgroundPreimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay.MethodsOne couple at risk of transmitting Usher… read more here.
Keywords: capture sequencing; haplotype analysis; genetic testing; usher syndrome ... See more keywords
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Research Involvement and Engagement"
DOI: 10.1186/s40900-018-0124-0
Abstract: Plain English summaryUsher syndrome is the most common cause of deafblindness worldwide and is estimated to affect between 3 and 6 people in every 100,000. Children are born with hearing loss and develop sight loss… read more here.
Keywords: research; deafblind people; people conversations; usher syndrome ... See more keywords