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

UID: 127

Author(s): Saima Riazuddin*, Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears * Corresponding Author
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.
Geographic Coverage
Punjab (Pakistan)
Subject of Study
Subject Domain
Access Restrictions
Free to All
Access Instructions
All relevant data are within the paper and its supporting information files.
Associated Publications
Data Type
Software Used
NHLBI Exome Sequencing Project
PrimeTime qPCR Primer Assays
Study Type
Empirical Research
Dataset Format(s)
Microsoft Word, Chart, TIF, Chromatogram, Graph, Confocal Image
Grant Support
Other Resources
S1 Figure (TIF)

The DFNB100 locus on chromosome 5q13.2-q23.2

S2 Figure (TIF)

Anti-PPIP5K2 and anti-PPIP5K1 antibodies validations

S3 Figure (TIF)

Murine PPIP5K1 and PPIP5K2 have similar expression profiles

S4 Figure (TIF)

SDS-PAGE gel showing the purified recombinant PPIP5K2WT, PPIP5K2R837H and PPIP5K21-466 proteins used for functional studies

S5 Figure (TIF)

Representative ABR wave forms from control and mutant mice at various developmental stages

S6 Figure (TIF)

No obvious degeneration of spiral ganglion neurons or stria vascularis was observed in Ppip5k2+/K^ and Ppip5k2K^/K^ mice at P150

S1 Table (DOCX)

Whole exome sequencing filtration scheme

S2 Table (DOCX)

Bioinformatics evaluation of deafness-associated variants found in PPIP5K2

S3 Table (DOCX)

SNP genotypes in 1,885,410 bp flanking PPIP5K2 variant

S4 Table (DOCX)

Primer sequences used to amplify and sequence human PPIP5K2 coding exons and splice junctions