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鈥損henotype correlation. Methods Targeted exome capture plus next-...
USH2A geneusher syndrome type IIAwhole exome sequencing (WES)Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing deficiencies and retinitis pigmentosa. The mechanisms underlying the Usher syndrome are highly variable. In the present study...
关键词:Usher综合征;USH2A基因;PCR:SNP:突变 Screening Screening USH2A gene in the patients of two Chinese Usher syndrome families Abstract Objective:To observe the clinical feature of two Chinese Usher syndrome families and to screen USH2A gene in the patients. Methods: 1.Based on family history...
Usher综合征(Usher syndrome,USH)以先天性感音神经性耳聋、渐进性视网膜色素变性(多为儿童期末至青春期发病)而致视力障碍、视野缺损、夜盲作为主要表现,部分患者伴有前庭功能障碍 [ 1 ]。该病呈常染色体隐性遗传,具有高度的遗传异质性,患病率为(3~6)/100 000 [ 2 ]。临床上根据听力、视力以及前庭功能受损程度将...
marked differences in the mutation spectrum between the Japanese and other populations Hiroshi Nakanishi1,2, Masafumi Ohtsubo2, Satoshi Iwasaki3, Yoshihiro Hotta4, Shin-ichi Usami5, Kunihiro Mizuta1, Hiroyuki Mineta1 and Shinsei Minoshima2 Usher syndrome (USH) is an autosomal recessive disorder cha...
目的为了扩大USH2A突变的范围并进一步揭示USH2A基因在2型Usher综合征(Usher syndrome type 2, USH2)中的作用,对中国的USH2患者进行了USH2A基因突变筛选。方法从收集到的中国USH2患者及其家属的外周血中提取基因组DNA,设计特异性引物扩增USH2A基因编码区(外显子2-72)并使用Sanger测序研究等位基因...
Usher syndrome (USH) is a combination of a progressive pigmentary retinopathy, indistinguishable from retinitis pigmentosa, and some degree of sensorineural hearing loss. USH can be subdivided in Usher type I (USHI), type II (USHII) and type III (USHIII), all of which are inherited as autos...
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from thi...
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from thi...
Zespół Ushera (Usher Syndrome; USH) to rzadka (1:6000–10 000 urodzeń) [1] choroba o podłożu genetycznym dziedziczona autosomalnie recesywnie, która jest przyczyną występowania ponad połowy przypadków dziedzicznego niedosłuchu połączonego z uszkodzeniem narz...