Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands
Background A 12-nucleotide RIPOR2 in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenotype is variable. The allele frequency (AF) of 0.039% of this variant was determined in a local cohort, and the reported phenotype may be biased because studied families were identified based on index patients with hearing loss (HL). In this study, we determine the AF in a cohort from a different geographical region of the Netherlands. Additionall... Mehr ...
Verfasser: | |
---|---|
Dokumenttyp: | TEXT |
Erscheinungsdatum: | 2023 |
Verlag/Hrsg.: |
BMJ Publishing Group Ltd
|
Schlagwörter: | Genotype-phenotype correlations |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26807263 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://jmg.bmj.com/cgi/content/short/60/11/1061 |