6533b834fe1ef96bd129ce56
RESEARCH PRODUCT
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
Carmen AyusoHerminio Pérez-garriguesC. NájeraTeresa JaijoConstantino MoreraJosé M. MillánMagdalena BeneytoElena Allersubject
Hearing lossUsher syndromeDNA Mutational AnalysisMolecular Sequence DataNerve Tissue ProteinsPathogenesisRetinitis pigmentosaotorhinolaryngologic diseasesmedicineHumansAmino Acid SequenceGenetic TestingGeneGenetics (clinical)Geneticsbusiness.industrymedicine.diseaseeye diseasesMutational analysisOphthalmologySpainPediatrics Perinatology and Child HealthMutationSensorineural hearing lossmedicine.symptombusinessUsher SyndromesUSH1G GENEdescription
The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, one can conclude that USH1G has a minor involvement in Usher syndrome pathogenesis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-09-27 | Ophthalmic genetics |