Aller Elena, Jaijo Teresa, Beneyto Magdalena, Nájera Carmen, Morera Constantino, Pérez-Garrigues Herminio, Ayuso Carmen, Millán Jose
Unidad de Genética, Hospital Universitario La Fe, Valencia, Spain.
Ophthalmic Genet. 2007 Sep;28(3):151-5. doi: 10.1080/13816810701537374.
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.
Usher综合征（USH）是一种常染色体隐性遗传性疾病，其特征为感音神经性听力损失、色素性视网膜炎（RP），在某些情况下还伴有前庭功能障碍。已发现编码SANS的USH1G基因会导致I型Usher综合征和非典型Usher综合征。对109名患有I型、II型、III型Usher综合征及未分类Usher综合征的西班牙非亲属患者进行了该基因的突变筛查，但仅检测到8种无明确致病作用的不同变化。基于这些结果以及之前在其他人群中对该基因进行突变分析的研究，可以得出结论，USH1G在Usher综合征发病机制中的作用较小。
