Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

doi:10.1016/j.ijporl.2009.01.005

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Article

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

International journal of pediatric otorhinolaryngology - 1 May 2009

Sirmaci Asli, Duman Duygu, Oztürkmen-Akay Hatice, Erbek Seyra, Incesulu Armağan, Oztürk-Hişmi Burcu, Arici Z Serap, Yüksel-Konuk E Berrin, Taşir-Yilmaz Seda, Tokgöz-Yilmaz Suna, Cengiz Filiz Başak, Aslan Idil, Yildirim Müzeyyen, Hasanefendioğlu-Bayrak Aylin, Ayçiçek Abdullah, Yilmaz Ismail, Fitoz Suat, Altin Fazilet, Ozdağ Hilal, Tekin Mustafa

Abstract excerpt

Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G...

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Identifiers

PMID: 19187973
DOI: 10.1016/j.ijporl.2009.01.005

Genes

TMC1
GJB2

Variants

Provenance

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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.PMID 19187973Read ↗

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