USH1E Research

Gene: Unknown
Year Identified: 1997

Each research project listed below will include a graphic of the research continuum. The gold box indicates where this project falls on the continuum, illustrating its progress towards reaching people living with Usher syndrome, from "Bench to Bedside."

Click here to learn more about the different stages in the research continuum.

USH1E-Related Science News


This 2010 review dives into the genetics of pathological mechanisms of Usher syndrome.

What this means for Usher syndrome: Research has come a long way since 2010!

The Coxsackievirus and Adenovirus Receptor (CAR) is an essential regulator of cell growth and adhesion during development. The gene for CAR, CXADR, is located within the genetic locus for USH1E. Based on this and a physical interaction with harmonin, the protein responsible for USH1C, researchers hypothesized that CAR may be involved in cochlear development and that mutations in CXADR may be responsible for USH1E.

What this means for Usher syndrome: We have potentially identified CXADR as the gene responsible for USH1E.

In 1997, using homozygosity mapping in a consanguineous family from Morocco, researchers identified a novel locus for USH1, USH1E, mapping to chromosome band 21q21.