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Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
Usher syndrome is a rare disease impacting about 20,000 Americans, according to Jeff Holt, Ph.D., chair of the Usher Syndrome Society’s scientific advisory board.
Usher syndrome type 1c is caused by a mutation at the USH1C locus and is characterized by childhood onset of bilateral sensorineural hearing loss, vestibular dysfunction, and vision loss from retinitis pigmentosa. [5] [6] [8] [11] Usher syndrome type 1 is the most severe form of Usher syndrome. [18]
Rebecca Ann Alexander (born February 4, 1979) is an American psychotherapist and author. Deafblind due to Usher syndrome, Alexander wrote a memoir in 2014 about coming to terms with her deteriorating sight as well as her feats as an extreme athlete, such as climbing to the summit of Mount Kilimanjaro.
7399 22283 Ensembl ENSG00000042781 ENSMUSG00000026609 UniProt O75445 Q2QI47 RefSeq (mRNA) NM_206933 NM_007123 NM_021408 RefSeq (protein) NP_009054 NP_996816 NP_067383 Location (UCSC) Chr 1: 215.62 – 216.42 Mb Chr 1: 187.99 – 188.7 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Usherin is a protein that in humans is encoded by the USH2A gene. This gene encodes the protein Usherin ...
CHARGE syndrome is rare, and caused by a genetic disorder.The acronym comes from the features associated with CHARGE syndrome which are as follows: C- coloboma of the eye, H- heart defects, A- atresia of nasal choanae, R- retardation of growth and/or development, G- genital and/or urinary abnormalities, and E- ear abnormalities and deafness.
Kathleen Margaret "Katie" Kelly OAM (born 6 February 1975) is an Australian paratriathlete, who has a degenerative disease known as Usher syndrome. [1] Kelly began competing in the PT5 paratriathlon classification in February 2015 when her condition deteriorated to a legally blind state. [1] [2] She has just 30 per cent of her vision. [3]
Usher's receiving his own flowers these days, landing the spot as the 2024 Super Bowl halftime show performer. ... James, was born with the rare genetic disorder Angelman syndrome.