Risultati di ricerca
10 dic 1999 · Identification of biallelic pathogenic variants in one of three genes – ADGRV1, USH2A, or WHRN – establishes the diagnosis if clinical features are inconclusive. Management. Treatment of manifestations: Early fitting of hearing aids and speech training.
- Jennifer Lentz, Bronya Jb Keats
- 2023/03/23
- 2016
Mutations in three genes (USH2A, ADGRV1 and WHRN) have been implicated in USH type 2. Mutations in a predominant gene (CLRN1) have been identified for USH type 3. Some genes are called into question: CIB2 and PDZD7 seem eventually to be involved in non syndromic HL.
As 20% of USH2A pathogenic variants are nonsense mutations, USH2A-related diseases are an ideal target for small translational read-through molecules (TRIDs). The introduction of a premature termination codon leads to either degradation of the mRNA by NMD or premature termination of the translation leading to a non-functional protein.
- Lyes Toualbi, Maria Toms, Mariya Moosajee
- 10.1016/j.exer.2020.108330
- 2020
- Exp Eye Res. 2020 Dec; 201: 108330.
USH2A gene mutations are the most common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not associated with other signs and symptoms as part of a genetic syndrome (such as Usher syndrome, described below).
USH individuals present with congenital sensorineural hearing loss in addition to progressive RP. Depending on the clinical signs, USH can be classified into three main subtypes. USH type 2 (MIM: 276901) is the most prevalent, and up to 85% of cases are due to variants in the gene USH2A (MIM: 608400 ).
25 mar 2021 · ProQR ha pubblicato risultati positivi dalla sperimentazione clinica Stellar di fase 1/2 su QR-421a, una terapia RNA sperimentale per il trattamento della sindrome di Usher e della retinite pigmentosa (RP) dovute a mutazione/i nell’esone 13 del gene USH2A. Traduzione in Italiano in arrivo.
Usherin is a protein that in humans is encoded by the USH2A gene. This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina.
