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References

These sources were used to develop the Genetics Home Reference gene summary on the DFNA5 gene.

Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol. 2004 Jan-Feb;9(1):34-46. PubMed citation
Entrez Gene
Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. PubMed citation
OMIM: DEAFNESS, AUTOSOMAL DOMINANT 5
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet. 1998 Oct;20(2):194-7. PubMed citation
Van Laer L, Vrijens K, Thys S, Van Tendeloo VF, Smith RJ, Van Bockstaele DR, Timmermans JP, Van Camp G. DFNA5: hearing impairment exon instead of hearing impairment gene? J Med Genet. 2004 Jun;41(6):401-6. PubMed citation
Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics. 2003 Nov;82(5):575-9. PubMed citation

Reviewed: November 2006

Published: May 13, 2013