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 ?
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.
Molecular analyses of DNA samples from affected Acadian families suggest that the USH1C mutation arose approximately 15 generations ago, corresponding to the seventeenth century arrival of the first Acadians in maritime Canada.
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.
Because of the structure of the Acadian population, a founder effect for the USH1C mutation is suggested.
In an effort to develop genomic reagents necessary to discover USH1C among the number of candidate genes predicted by the genetic map, we (DeAngelis et al.
0 Mbp respectively) was sufficient to contain all DNA markers from genetic mapping known to bound and be contained within the USH1C critical region.
The KCNC1 gene, which encodes a component of a voltage-gated potassium channel, has been mapped to the USH1C critical region (Marietta et al.
Using data and clones from our physical maps of the USH1C critical region, we have localized the human NEFA gene to 11p15.
The USH1C gene is one of currently six genes predicted to cause Type I disease (Kaplan et al.
In an effort to facilitate discovery of genes in the USH1C critical region, we have recently begun a large-scale sequencing strategy on components of our high-resolution BAC contig.
have localized USH1C to the short arm of chromosome 11 within 400 kb of