usher综合症（现在真的要开始用简称了）由三个相关致病基因导致，分别是最常见的USH2A，占总患者数的57%到79%，其次是USH2C，对应omim数据库中的 ADGRV1 基因，再其次是USH2D，对应omim中的 WHRN 基因。 到这是不是一头雾水。 没事，这三个usher综合症相关基因都挺常见的，患者朋友们一定有其中一个的失去功能突变。 我之后会慢慢解释，从分子遗传学的角度解释。 咱们先关注重点，患者数最多的USH2A。 我们再看上图右手边的粉色圈圈。 中间 …

2024年12月25日 · USH2A (Usherin) is a Protein Coding gene. Diseases associated with USH2A include Usher Syndrome, Type Iia and Retinitis Pigmentosa 39. Gene Ontology (GO) annotations related to this gene include collagen binding and myosin binding. An important paralog of …

Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that usually begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision.

USH2A 基因的致病性缺陷会导致2种 常染色体隐性遗传病， 视网膜色素变性39型 和 Usher综合征2A型。 中国人群 3287对夫妇中既有一对有生育患儿风险，风险值为 1/4。

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. Mutations within this gene have been associated with Usher syndrome type IIa.

The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.

HGNC Approved Gene Symbol: USH2A. Usherin is a transmembrane protein expressed in various tissues including retinal photoreceptors and cochlear hair cells, with a crucial role in photoreceptor survival and cochlear development (summary by Jung et al., 2023).

USH2又分为USH2A、ADGRV1、WHRN这三种基因型，USH2A 基因突变可导致遗传性耳聋及视网膜色素变性症状，亦可仅导致视网膜色素变性 (RP39) 而不伴听力损失。

USH2A (c.2276 G>T) is the likely disease-causing gene in two non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. Touch sensitivity was impaired in a cohort of individuals carrying pathogenic mutations in the USH2A gene, but not in other cases of Usher syndrome.

目前已知USH有14个致病基因，USH2A突变是其最常见的原因。 随着对USH2A基因研究的深入，USH2A致病机制、动物模型建立、临床诊断以及基于基因治疗、细胞移植和RNA剪接的治疗等方面研究皆取得了巨大进展。