Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, Levent Sennaroglu, Tayfun Kirazli, Hudaver Alper, Yuksel Olgun, Armagan Incesulu, Tahir Atik, Fabiola Huesca-Hernandez, Juan Domínguez-Aburto, Garly González-Rosado, Edgar Hernandez-Zamora, Maria de la Luz Arenas-Sordo, Ibis Menendez, Kadir Serkan Orhan, Hakan Avci, Nejat Mahdieh, Mortaza Bonyadi, Joseph FosterDuygu Duman, Ferda Ozkinay, Susan H Blanton, Guney Bademci, Mustafa Tekin

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Objectives The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. Methods Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. Results We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. Conclusion A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.

Original languageEnglish (US)
Pages (from-to)167-171
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume101
DOIs
StatePublished - Oct 1 2017

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Sensorineural Hearing Loss
Iran
Turkey
Mexico
Hearing Loss
Exome
Goiter
Inner Ear
Mutation
DNA
Population

Keywords

  • Hearing loss
  • SLC26A4
  • Whole exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

Cite this

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. / Cengiz, Filiz Basak; Yilmazer, Rasim; Olgun, Levent; Sennaroglu, Levent; Kirazli, Tayfun; Alper, Hudaver; Olgun, Yuksel; Incesulu, Armagan; Atik, Tahir; Huesca-Hernandez, Fabiola; Domínguez-Aburto, Juan; González-Rosado, Garly; Hernandez-Zamora, Edgar; Arenas-Sordo, Maria de la Luz; Menendez, Ibis; Orhan, Kadir Serkan; Avci, Hakan; Mahdieh, Nejat; Bonyadi, Mortaza; Foster, Joseph; Duman, Duygu; Ozkinay, Ferda; Blanton, Susan H; Bademci, Guney; Tekin, Mustafa.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 101, 01.10.2017, p. 167-171.

Research output: Contribution to journalArticle

Cengiz, FB, Yilmazer, R, Olgun, L, Sennaroglu, L, Kirazli, T, Alper, H, Olgun, Y, Incesulu, A, Atik, T, Huesca-Hernandez, F, Domínguez-Aburto, J, González-Rosado, G, Hernandez-Zamora, E, Arenas-Sordo, MDLL, Menendez, I, Orhan, KS, Avci, H, Mahdieh, N, Bonyadi, M, Foster, J, Duman, D, Ozkinay, F, Blanton, SH, Bademci, G & Tekin, M 2017, 'Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort', International Journal of Pediatric Otorhinolaryngology, vol. 101, pp. 167-171. https://doi.org/10.1016/j.ijporl.2017.08.006
Cengiz, Filiz Basak ; Yilmazer, Rasim ; Olgun, Levent ; Sennaroglu, Levent ; Kirazli, Tayfun ; Alper, Hudaver ; Olgun, Yuksel ; Incesulu, Armagan ; Atik, Tahir ; Huesca-Hernandez, Fabiola ; Domínguez-Aburto, Juan ; González-Rosado, Garly ; Hernandez-Zamora, Edgar ; Arenas-Sordo, Maria de la Luz ; Menendez, Ibis ; Orhan, Kadir Serkan ; Avci, Hakan ; Mahdieh, Nejat ; Bonyadi, Mortaza ; Foster, Joseph ; Duman, Duygu ; Ozkinay, Ferda ; Blanton, Susan H ; Bademci, Guney ; Tekin, Mustafa. / Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. In: International Journal of Pediatric Otorhinolaryngology. 2017 ; Vol. 101. pp. 167-171.
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abstract = "Objectives The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. Methods Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. Results We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. Conclusion A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.",
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T1 - Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

AU - Cengiz, Filiz Basak

AU - Yilmazer, Rasim

AU - Olgun, Levent

AU - Sennaroglu, Levent

AU - Kirazli, Tayfun

AU - Alper, Hudaver

AU - Olgun, Yuksel

AU - Incesulu, Armagan

AU - Atik, Tahir

AU - Huesca-Hernandez, Fabiola

AU - Domínguez-Aburto, Juan

AU - González-Rosado, Garly

AU - Hernandez-Zamora, Edgar

AU - Arenas-Sordo, Maria de la Luz

AU - Menendez, Ibis

AU - Orhan, Kadir Serkan

AU - Avci, Hakan

AU - Mahdieh, Nejat

AU - Bonyadi, Mortaza

AU - Foster, Joseph

AU - Duman, Duygu

AU - Ozkinay, Ferda

AU - Blanton, Susan H

AU - Bademci, Guney

AU - Tekin, Mustafa

PY - 2017/10/1

Y1 - 2017/10/1

N2 - Objectives The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. Methods Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. Results We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. Conclusion A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.

AB - Objectives The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. Methods Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. Results We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. Conclusion A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.

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KW - SLC26A4

KW - Whole exome sequencing

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