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    A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
    (Wiley, 2009) Sirmaci, A.; Oeztuerkmen-Akay, H.; Erbek, S.; Incesulu, A.; Duman, D.; Tasir-Yilmaz, S.; Oezdag, H.
    Sirmaci A, ozturkmen-Akay H, Erbek S, Incesulu A, Duman D, Tasir-Yilmaz S, ozdag H, Tekin M. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.Clin Genet 2009: 75: 562-567. (C) Blackwell Munksgaard, 2009 Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families. Screening of this mutation in 254 families with ARNSSNHL, without GJB2 mutations, revealed four additional affected families. A novel mutation was found in a non-complementary marriage between a deaf couple who were homozygous for p.R84W and p.W57X, respectively with two affected children who were compound heterozygotes. Six of the TMIE families originated from southeastern Anatolia, making p.R84W a common cause of hearing loss in that region with a relative frequency of 10.3% (95% CI is 2.5-18.1%). The overall prevalence of the p.R84W mutation in ARNSSNHL in Turkey is 2.4% (95% CI is 0.7-4.0%). Genotyping of single-nucleotide polymorphisms flanking the TMIE gene revealed a conserved haplotype, suggesting a single origin for p.R84W from a common ancestor 1250 years ago (95% CI is 650-2500 years). We conclude that p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with ARNSSNHL.
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    Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
    (Nature Portfolio, 2016) Bademci, G.; Cengiz, F. B.; Foster, J., II; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.
    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.