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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 2015
Christina M Sloan-Heggen, and
Mojgan Babanejad, and
Maryam Beheshtian, and
Allen C Simpson, and
Kevin T Booth, and
Fariba Ardalani, and
Kathy L Frees, and
Marzieh Mohseni, and
Reza Mozafari, and
Zohreh Mehrjoo, and
Leila Jamali, and
Saeideh Vaziri, and
Tara Akhtarkhavari, and
Niloofar Bazazzadegan, and
Nooshin Nikzat, and
Sanaz Arzhangi, and
Farahnaz Sabbagh, and
Hasan Otukesh, and
Seyed Morteza Seifati, and
Hossein Khodaei, and
Maryam Taghdiri, and
Nicole C Meyer, and
Ahmad Daneshi, and
Mohammad Farhadi, and
Kimia Kahrizi, and
Richard J H Smith, and
Hela Azaiez, and
Hossein Najmabadi
Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
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 spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. METHODS Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. RESULTS We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and three novel CNV. Several variants represent founder mutations. CONCLUSIONS This study attests to the power of TGE and massively parallel sequencing as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery.
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