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Gene Review:

DFNB17 - deafness, autosomal recessive 17

Homo sapiens

Greinwald, J.H. et al., Guo, Y. et al., Pilipenko, V.V. et al.

Pilipenko, Reece, Choo, Greinwald,

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Disease relevance of DFNB17

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31 [1].

High impact information on DFNB17

Previously, we identified FAM3C as a candidate gene for autosomal recessive nonsyndromic hearing loss locus 17 (DFNB17) [2].
Furthermore, the largest family identifies a novel locus (DFNB17) telomeric to the DFNB4 and Pendred intervals [1].
We previously mapped the DFNB17 locus to a 3-4 cM interval on human chromosome 7q31 in a large consanguineous Indian family with congenital profound sensorineural hearing loss [3].

References

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. Greinwald, J.H., Wayne, S., Chen, A.H., Scott, D.A., Zbar, R.I., Kraft, M.L., Prasad, S., Ramesh, A., Coucke, P., Srisailapathy, C.R., Lovett, M., Van Camp, G., Smith, R.J. Am. J. Med. Genet. (1998) [Pubmed]
Genomic organization and expression analysis of the murine Fam3c gene. Pilipenko, V.V., Reece, A., Choo, D.I., Greinwald, J.H. Gene (2004) [Pubmed]
Refining the DFNB17 interval in consanguineous Indian families. Guo, Y., Pilipenko, V., Lim, L.H., Dou, H., Johnson, L., Srisailapathy, C.R., Ramesh, A., Choo, D.I., Smith, R.J., Greinwald, J.H. Mol. Biol. Rep. (2004) [Pubmed]

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