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  • UMB Dataset

    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

    Authors
    Saima Riazuddin
    Rizwan Yousaf
    Chunfang Gu
    Zubair M. Ahmed
    4 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...

    Subject
    Hearing Loss
    Point Mutation
    Access Rights
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