A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1

@article{Ramzan2004ANL,
  title={A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1},
  author={Khushnooda Ramzan and Rehan S Shaikh and Jamil Ahmad and Shaheen N. Khan and Saima Riazuddin and Zubair M. Ahmed and Thomas B. Friedman and Edward R. Wilcox and Sheikh Riazuddin},
  journal={Human Genetics},
  year={2004},
  volume={116},
  pages={17-22}
}
Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus, DFNB49. A maximum two-point lod score of 4.44 and 5.94 at recombination fraction θ=0 was obtained for markers D5S2055 and D5S424 in families PKDF041 and PKDF141, respectively. Haplotype analysis revealed an 11 cM linkage region flanked by markers D5S647 (74.07 cM) and D5S1501 (85.25 cM). Candidate deafness genes in this… 
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The demonstration that PPIP5K2 has a role in hearing in humans indicates that PP-IP signaling is important to hair cell maintenance and function within inner ear.
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