USH1C

USH1C

Notation for gene for Usher type 1C syndrome.

Usher syndrome, type 1C

A heterogeneous condition (OMIM:276904) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Molecular pathology
Caused by defects of USH1C, which encodes a scaffold protein that plays a role in assembling Usher protein complexes and is required for normal hearing.
References in periodicals archive ?
Similarly, researchers achieved site-specific gene correction in HEK293 cells stably expressing a missense mutation in Ush1c, causing Usher syndrome 1C.
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
De ellos, han sido identificados nueve genes responsables: MYO7A para USH1B, USH1C para USH1C, CDH23 para US-H1D, PCDH15 para USH1F, SANS para USH1G, y CIB2 para USH1J (8-13); USH2A para USH2A, VLGRlb para USH2C, WHRNpara USH2D y US-H3A para USH3 (14-18).
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
The gene for Type 1C Usher syndrome (USH1C) is segregating in a small population of Acadian descendants from southwestern Louisiana.
The defect in this gene, tentatively called USH1C (and thus the cause of Type 1C disease), is very likely unique in individuals of Acadian ancestry.
The statistical correlation between affectedness and nonrecombination (genomic similarity) is a strong indicator that USH1C lies in this candidate genomic region.
At present, ten genes have been associated with USH, including MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN-1 [3-15].
Similar to harmonin (USH1C) and whirlin (USH2D), full-length PDZD7 contains three PDZ domains, a harmonin-N like (HNL) domain, and a proline-rich (PR) region.
Moreover, PDZD7 was also shown to interact with USH1 proteins MYO7A (USH1B), harmonin (USH1C), and SANS (USH1G) [18, 24, 25].
have localized USH1C to the short arm of chromosome 11 within 400 kb of
newly-localized genes as USH1C. Supported by USPHS DC00379 (BK) and