A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

References

• Alford, R. L., K. S. Arnos, M. Fox, J. W. Lin, C. G. Palmer, A. Pandya, H. L. Rehm, et al. 2014. “American College of Medical Genetics and Genomics Guideline for the Clinical Evaluation and Etiologic Diagnosis of Hearing Loss.” Genetics in Medicine 16: 347–355.
   PubMed Web of Science ®Google Scholar
• Atik, T., H. Onay, A. Aykut, G. Bademci, T. Kirazli, M. Tekin, F. Ozkinay. 2015. “Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.” PLoS One 10 (11): e0142154. doi:10.1371/journal.pone.0142154.
   PubMed Web of Science ®Google Scholar
• Bassot, C., G. Minervini, E. Leonardi, and S. C. E. Tosatto. 2017. “Mapping Pathogenic Mutations Suggests an Innovative Structural Model for the Pendrin (SLC26A4) Transmembrane Domain.” Biochimie 132: 109–120. doi:10.1016/j.biochi.2016.10.002.
   PubMed Web of Science ®Google Scholar
• Berrettini, S., F. Forli, F. Bogazzi, E. Neri, L. Salvatori, A. P. Casani, S. S. Franceschini. 2005. “Large Vestibular Aqueduct Syndrome: Audiological, Radiological, Clinical, and Genetic Features.” American Journal of Otolaryngology 26 (6): 363–371. doi:10.1016/j.amjoto.2005.02.013.
   PubMed Web of Science ®Google Scholar
• Bidart, J.-M., C. Mian, V. Lazar, D. Russo, S. Filetti, B. Caillou, and M. Schlumberger. 2000. “Expression of Pendrin and the Pendred Syndrome (PDS) Gene in Human Thyroid Tissues.” Journal of Clinical Endocrinology & Metabolism 85: 2028–2033. doi:10.1210/jc.85.5.2028.
   PubMed Web of Science ®Google Scholar
• Bizhanova, A., and P. Kopp. 2010. “Genetics and Phenomics of Pendred Syndrome.” Molecular and Cellular Endocrinology 322 (1–2): 83–90. doi:10.1016/j.mce.2010.03.006.
   PubMed Web of Science ®Google Scholar
• Campbell, C., R. A. Cucci, S. Prasad, G. E. Green, J. B. Edeal, C. E. Galer, L. P. Karniski, V. C. Sheefield, and R. J. Smith. 2001. “Pendred Syndrome, DFNB4, and PDS/SLC26A4 Identification of Eight Novel Mutations and Possible Genotype–Phenotype Correlations.” Human Mutation 17 (5): 403–411. doi:10.1002/humu.1116.
   PubMed Web of Science ®Google Scholar
• Chaleshtori, M. H., D. Farhud, and M. Patton. 2007. “Congratulation to Margaret Chan Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations.” Iranian Journal of Public Health 36: 1–14.
   Web of Science ®Google Scholar
• Choi, B. Y., H. M. Kim, T. Ito, K. Y. Lee, X. Li, K. Monahan, Y. Wen, et al. 2011. “Mouse Model of Enlarged Vestibular Aqueducts Defines Temporal Requirement of Slc26a4 Expression for Hearing Acquisition.” The Journal of Clinical Investigation 121 (11): 4516–4525. doi:10.1172/JCI59353.
   PubMed Web of Science ®Google Scholar
• Ciulla, T. A., R. M. Sklar, and S. L. Hauser. 1988. “A Simple Method for DNA Purification from Peripheral Blood.” Analytical Biochemistry 174 (2): 485–488. doi:10.1016/0003-2697(88)90047-4.
   PubMed Web of Science ®Google Scholar
• Coyle, B., R. Coffey, J. A. L. Armour, E. Gausden, Z. Hochberg, A. Grossman, K. Britton, M. Pembrey, W. Reardon, and R. Trembath. 1996. “Pendred Syndrome (Goitre and Sensorineural Hearing Loss) Maps to Chromosome 7 in the Region Containing the Nonsyndromic Deafness Gene DFNB4.” Nature Genetics 12 (4): 421. doi:10.1038/ng0496-421.
   PubMed Web of Science ®Google Scholar
• De Keulenaer, S., J. Hellemans, S. Lefever, J. P. Renard, J. De Schriver, H. Van de Voorde, M. A. Tabatabaiefar, et al. 2012. “Molecular Diagnostics for Congenital Hearing Loss Including 15 Deafness Genes Using a Next Generation Sequencing Platform.” BMC Medical Genomics 5: 17. doi:10.1186/1755-8794-5-17.
   PubMed Web of Science ®Google Scholar
• Dossena, S., C. Nofziger, G. Tamma, E. Bernardinelli, S. Vanoni, C. Nowak, E. Grabmayer., et al. 2011. “Molecular and Functional Characterization of Human Pendrin and Its Allelic Variants.” Cellular Physiology and Biochemistry 28 (3): 451–466. doi:10.1159/000335107.
   PubMedGoogle Scholar
• Everett, L. A., B. Glaser, J. C. Beck, J. R. Idol, A. Buchs, M. Heyman, F. Adawi., et al. 1997. “Pendred Syndrome Is Caused by Mutations in a Putative Sulphate Transporter Gene (PDS).” Nature Genetics 17 (4): 411. doi:10.1038/ng1297-411.
   PubMed Web of Science ®Google Scholar
• Friedman, T. B., and A. J. Griffith. 2003. “Human Nonsyndromic Sensorineural Deafness.” Annual Review of Genomics and Human Genetics 4 (1): 341–402. doi:10.1146/annurev.genom.4.070802.110347.
   PubMedGoogle Scholar
• Geertsma, E. R., Y. N. Chang, F. R. Shaik, Y. Neldner, E. Pardon, J. Steyaert, and R. Dutzler. 2015. “Structure of a Prokaryotic Fumarate Transporter Reveals the Architecture of the SLC26 Family.” Nature Structural & Molecular Biology 22 (10): 803–808. doi:10.1038/nsmb.3091.
   PubMed Web of Science ®Google Scholar
• Goodwin, S., J. D. McPherson, and W. R. McCombie. 2016. “Coming of Age: ten Years of Next-Generation Sequencing Technologies.” Nature Reviews Genetics 17 (6): 333. doi:10.1038/nrg.2016.49.
   PubMed Web of Science ®Google Scholar
• Gorbunov, D., M. Sturlese, F. Nies, M. Kluge, M. Bellanda, R. Battistutta, and D. Oliver. 2014. “Molecular Architecture and the Structural Basis for Anion Interaction in Prestin and SLC26 Transporters.” Nature Communications 5: 3622. doi:10.1038/ncomms4622.
   PubMed Web of Science ®Google Scholar
• Gorlin, R. J., H. V. Toriello, and M. M. Cohen. 1995. Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press.
   Google Scholar
• Hilgert, N., R. J. Smith, and G. Van Camp. 2009. “Forty-Six Genes Causing Nonsyndromic Hearing Impairment: which Ones Should Be Analyzed in DNA Diagnostics?” Mutation Research/Reviews in Mutation Research 681 (2–3): 189–196. doi:10.1016/j.mrrev.2008.08.002.
   PubMed Web of Science ®Google Scholar
• Ishihara, K., S. Okuyama, S. Kumano, K. Iida, H. Hamana, M. Murakoshi, T. Kobayashi., et al. 2010. “Salicylate Restores Transport Function and Anion Exchanger Activity of Missense Pendrin Mutations.” Hearing Research 270 (1–2): 110–118. doi:10.1016/j.heares.2010.08.015.
   PubMed Web of Science ®Google Scholar
• Li Xc, E. L., A. K. Lalwani, D. Desmukh, T. B. Friedman, and E. D. Green. 1998. “A Mutation in PDS Causes Nonsyndromic Recessive Deafness.” Nature Genetics 18: 215–217. doi:10.1038/ng0398-215.
   PubMed Web of Science ®Google Scholar
• López‐Bigas, N., S. Melchionda, R. di Cid, A. Grifa, M. L. Arbones, P. Gasparini, X. Estivill. 2002. “Erratum: Identification of Five New Mutations of PDS/SLC26A4 in Mediterranean Families with Hearing Impairment.” Human Mutation 20: 77–78. doi:10.1002/humu.9043.
   PubMedGoogle Scholar
• Morgans, M., and W. Trotter. 1958. “Association of Congenital Deafness with Goitre the Nature of the Thyroid Defect.” Lancet (London, England) 1 (7021): 607–609.
   PubMedGoogle Scholar
• Park, H., S. Shaukat, X. Z. Liu, S. H. Han, S. Naz, M. Ghosh, H. N. Kim, et al. 2003. “Origins and Frequencies of SLC26A4 (PDS) Mutations in East and South Asians: global Implications for the Epidemiology of Deafness.” Journal of Medical Genetics 40 (4): 242–248. doi:10.1136/jmg.40.4.242.
   PubMed Web of Science ®Google Scholar
• Pryor, S., A. C. Madeo, J. C. Reynolds, N. J. Sarlis, K. S. Arnos, W. E. Nance, Y. Yang, et al. 2005. “SLC26A4/PDS Genotype-Phenotype Correlation in Hearing Loss with Enlargement of the Vestibular Aqueduct (EVA): Evidence That Pendred Syndrome and Non-Syndromic EVA Are Distinct Clinical and Genetic Entities.” Journal of Medical Genetics 42 (2): 159–165. doi:10.1136/jmg.2004.024208.
   PubMed Web of Science ®Google Scholar
• Reardon, W., R. Coffey, T. Chowdhury, A. Grossman, H. Jan, K. Britton, P. Kendall-Taylor, and R. Trembath. 1999. “Prevalence, Age of Onset, and Natural History of Thyroid Disease in Pendred Syndrome.” Journal of Medical Genetics 36: 595–598.
   PubMed Web of Science ®Google Scholar
• Richards, S., N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W. W. Grody., et al. 2015. “Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.” Genetics in Medicine 17 (5): 405–423. doi:10.1038/gim.2015.30.
   PubMed Web of Science ®Google Scholar
• Rotman-Pikielny, P., K. Hirschberg, P. Maruvada, K. Suzuki, I. E. Royaux, E. D. Green, L. D. Kohn, et al. 2002. “Retention of Pendrin in the Endoplasmic Reticulum Is a Major Mechanism for Pendred Syndrome.” Human Molecular Genetics 11 (21): 2625–2633. doi:10.1093/hmg/11.21.2625.
   PubMed Web of Science ®Google Scholar
• Royaux, I. E., S. M. Wall, L. P. Karniski, L. A. Everett, K. Suzuki, M. A. Knepper, E. D. Green., et al. 2001. “Pendrin, Encoded by the Pendred Syndrome Gene, Resides in the Apical Region of Renal Intercalated Cells and Mediates Bicarbonate Secretion.” Proceedings of the National Academy of Sciences 98 (7): 4221–4226. doi:10.1073/pnas.071516798.
   PubMed Web of Science ®Google Scholar
• Saadat, M., M. Ansari-Lari, and D. Farhud. 2004. “Short Report Consanguineous Marriage in Iran.” Annals of Human Biology 31 (2): 263–269. doi:10.1080/03014460310001652211.
   PubMed Web of Science ®Google Scholar
• Scott, D. A., R. Wang, T. M. Kreman, M. Andrews, J. M. McDonald, J. R. Bishop, R. J. Smith, et al. 2000. “Functional Differences of the PDS Gene Product Are Associated with Phenotypic Variation in Patients with Pendred Syndrome and Non-Syndromic Hearing Loss (DFNB4).” Human Molecular Genetics 9 (11): 1709–1715. doi:10.1093/hmg/9.11.1709.
   PubMed Web of Science ®Google Scholar
• Shearer, A. E., and R. J. Smith. 2015. “Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.” Otolaryngology–Head and Neck Surgery 153 (2): 175–182. doi:10.1177/0194599815591156.
   PubMed Web of Science ®Google Scholar
• Shearer, A. E., A. P. DeLuca, M. S. Hildebrand, K. R. Taylor, J. Gurrola, S. Scherer, T. E. Scheetz., et al. 2010. “Comprehensive Genetic Testing for Hereditary Hearing Loss Using Massively Parallel Sequencing.” Proceedings of the National Academy of Sciences 107 (49): 21104–21109. doi:10.1073/pnas.1012989107.
   PubMed Web of Science ®Google Scholar
• Smith, R. J., J. F. Bale, and K. R. White. 2005. “Sensorineural Hearing Loss in Children.” Lancet (London, England) 365 (9462): 879–890. doi:10.1016/S0140-6736(05)71047-3.
   PubMed Web of Science ®Google Scholar
• Soleimani, M., T. Greeley, S. Petrovic, Z. Wang, H. Amlal, P. Kopp, C. E. Burnham., et al. 2001. “Pendrin: An Apical Cl-/OH-/HCO3- exchanger in the kidney cortex.” American Journal of Physiology. Renal Physiology 280 (2): F356–F364. doi:10.1152/ajprenal.2001.280.2.F356.
   PubMed Web of Science ®Google Scholar
• Stevens, G., S. Flaxman, E. Brunskill, M. Mascarenhas, C. D. Mathers, and M. Finucane. 2013. “Global and Regional Hearing Impairment Prevalence: An Analysis of 42 Studies in 29 Countries.” European Journal of Public Health 23 (1): 146–152. doi:10.1093/eurpub/ckr176.
   PubMed Web of Science ®Google Scholar
• Tabatabaiefar, M. A., M. M. Zohour, L. Sahriati, J. Saffari-Chalestori, K. Ashrafi, A. Gholami, E. Farrokhi, et al. 2010. “Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndrom.” Journal of Sciences Islamic Republic Of Iran 21 (2): 105–112.
   Google Scholar
• Tang, W., D. Qian, S. Ahmad, D. Mattox, N. W. Todd, H. Han, S. Huang., et al. 2012. “A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach.” Genetic Testing and Molecular Biomarkers 16 (6): 536–542. doi:10.1089/gtmb.2011.0187.
   PubMed Web of Science ®Google Scholar
• Taylor, J. P., R. A. Metcalfe, P. F. Watson, A. P. Weetman, and R. C. Trembath. 2002. “Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: implications for Thyroid Dysfunction in Pendred Syndrome.” The Journal of Clinical Endocrinology & Metabolism 87: 1778–1784. doi:10.1210/jc.87.4.1778.
   PubMed Web of Science ®Google Scholar
• Van Camp, G., P. J. Willems, and R. Smith. 1997. “Nonsyndromic Hearing Impairment: unparalleled Heterogeneity.” American Journal of Human Genetics 60 (4): 758–764.
   PubMed Web of Science ®Google Scholar
• Vona, B., T. Müller, I. Nanda, C. Neuner, M. A. H. Hofrichter, J. Schröder, O. Bartsch., et al. 2014. “Targeted Next-Generation Sequencing of Deafness Genes in Hearing-Impaired Individuals Uncovers Informative Mutations.” Genetics in Medicine 16 (12): 945. doi:10.1038/gim.2014.65.
   PubMed Web of Science ®Google Scholar
• Wangemann, P., K. Nakaya, T. Wu, R. J. Maganti, E. M. Itza, J. D. Sanneman, D. G. Harbidge., et al. 2007. “Loss of Cochlear HCO3− Secretion Causes Deafness via Endolymphatic Acidification and Inhibition of Ca2+ Reabsorption in a Pendred Syndrome Mouse Model.” American Journal of Physiology-Renal Physiology 292 (5): F1345–F1353. doi:10.1152/ajprenal.00487.2006.
   PubMed Web of Science ®Google Scholar
• Wolff, J. 1998. “Perchlorate and the Thyroid Gland.” Pharmacological Reviews 50 (1): 89–106.
   PubMed Web of Science ®Google Scholar
• World Health Organization. 2009. Global health risks: mortality and burden of disease attributable to selected major risks. World Health Organization.
   Google Scholar
• Yoshida, A., S. Taniguchi, I. Hisatome, I. E. Royaux, E. D. Green, L. D. Kohn, and K. Suzuki. 2002. “Pendrin Is an Iodide-Specific Apical Porter Responsible for Iodide Efflux from Thyroid Cells.” The Journal of Clinical Endocrinology & Metabolism 87: 3356–3361. doi:10.1210/jc.87.7.3356.
   PubMed Web of Science ®Google Scholar