Q829X, a novel mutation in the gene encoding otofe...[J Med Genet. 2002] - PubMed Result

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: J Med Genet. 2002 Jul;39(7):502-6. Links

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar km 9, 28034 Madrid, Spain.

PMID: 12114484 [PubMed - indexed for MEDLINE]

PMCID: PMC1735186

Related articles

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
J Med Genet. 2003 Jan; 40(1):45-50.

[J Med Genet. 2003]
Review[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene]
Acta Otorrinolaringol Esp. 2004 Mar; 55(3):120-5.

[Acta Otorrinolaringol Esp. 2004]
[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset]
Acta Otorrinolaringol Esp. 2005 Dec; 56(10):463-8.

[Acta Otorrinolaringol Esp. 2005]
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Hum Mutat. 2008 Jun; 29(6):823-31.

[Hum Mutat. 2008]
Review[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]
Ned Tijdschr Geneeskd. 2003 Nov 1; 147(44):2170-2.

[Ned Tijdschr Geneeskd. 2003]
» See reviews... | » See all...

Cited by 2 PubMed Central articles

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.
Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR. Hear Res. 2007 Dec; 234(1-2):21-8. Epub 2007 Sep 29.

[Hear Res. 2007]
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, et al. J Med Genet. 2006 Jul; 43(7):576-81. Epub 2005 Dec 21.

[J Med Genet. 2006]

Recent Activity

Clear Turn Off Turn On

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Span...Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show