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Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss

✍ Scribed by Behzad Davarnia; Mojgan Babanejad; Zohreh Fattahi; Nooshin Nikzat; Niloofar Bazazzadegan; Akbar Pirzade; Reza Farajollahi; Carla Nishimura; Khadijeh Jalalvand; Sanaz Arzhangi; Kimia Kahrizi; Richard J.H. Smith; Hossein Najmabadi


Book ID
116566179
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
231 KB
Volume
76
Category
Article
ISSN
0165-5876

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Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e

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Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc