Article
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Journal of medical genetics - 1 Dec 2015
Sloan-Heggen Christina M, Babanejad Mojgan, Beheshtian Maryam, Simpson Allen C, Booth Kevin T, Ardalani Fariba, Frees Kathy L, Mohseni Marzieh, Mozafari Reza, Mehrjoo Zohreh, Jamali Leila, Vaziri Saeideh, Akhtarkhavari Tara, Bazazzadegan Niloofar, Nikzat Nooshin, Arzhangi Sanaz, Sabbagh Farahnaz, Otukesh Hasan, Seifati Seyed Morteza, Khodaei Hossein, Taghdiri Maryam, Meyer Nicole C, Daneshi Ahmad, Farhadi Mohammad, Kahrizi Kimia, Smith Richard J H, Azaiez Hela, Najmabadi Hossein
Abstract excerpt
BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the...
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