UMB Data Catalog
A project of the Health Sciences and Human Services Library-
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
UMB Dataset- Authors
- Saima RiazuddinRizwan YousafChunfang GuZubair M. Ahmed4 more author(s)...
- Description
Genetically complex non-syndromic recessively inherited hearing loss (NSRHL) comprises approximately 75% of hereditary deafness. This study investigated NSRHL in two large consanguineous Pakistani families. Exome sequencing coupled with homozygosity mapping was used to identify a missense variant in PPIP5K2 gene associated with nonsyndromic, prelingual sensorineural deafness. Biochemical analysis was performed to compare wild type human PPIP5K2 with the variant. Additional research was conducted on mouse mutants to observe the effects on the outer hair cells and hearing thresholds. This dataset includes genetic, hearing function, gene expression, and histological data and images.
- Subject
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Hearing LossPoint Mutation
- Geographic Coverage
- International
- Access Rights
- Unrestricted access