| 1 | DFN6, SMPX
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| A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
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| Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL.
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| Hum Mutat 34(1):66-9. doi: 10.1002/humu.22205. Epub 2012 Oct 11.
2013
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| 2 | DFN6, SMPX
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| Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
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| Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I.
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| Am J Hum Genet 88(5):621-7. Epub 2011 May 5.
2011
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| 3 | DFN6, SMPX
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| Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
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| Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H.
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| Am J Hum Genet 88(5):628-34. Epub 2011 May 5.
2011
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| 4 | DFN6, DFNX4
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| Sex-linked deafness.
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| Petersen MB, Wang Q, Willems PJ.
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| Clin Genet 73(1):14-23. Epub 2007 Nov 13. Review. 2008
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| 5 | DFN6, DFNA6, DFNX4
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| A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
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| del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hern�ndez FJ, Rodr�guez M, Borr�s I, Montero A, Bell�n J, Tapia MC, Moreno F.
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| Hum Mol Genet 5(9):1383-7. 1996
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