Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

G. Bademci, F. B. Cengiz, J. Foster, D. Duman, L. Sennaroglu, O. Diaz-Horta, T. Atik, T. Kirazli, L. Olgun, H. Alper, I. Menendez, I. Loclar, G. Sennaroglu, S. Tokgoz-Yilmaz, S. Guo, Y. Olgun, N. Mahdieh, M. Bonyadi, N. Bozan, A. AyralF. Ozkinay, M. Yildirim-Baylan, Susan H Blanton, Mustafa Tekin

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Abstract

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.

Original languageEnglish (US)
Article number31622
JournalScientific Reports
Volume6
DOIs
StatePublished - Aug 26 2016

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Deafness
Hearing Loss
Genes
Waardenburg Syndrome
Panthera
Exome
Genetic Heterogeneity
tebufenozide

ASJC Scopus subject areas

  • General

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Bademci, G., Cengiz, F. B., Foster, J., Duman, D., Sennaroglu, L., Diaz-Horta, O., ... Tekin, M. (2016). Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Scientific Reports, 6, [31622]. https://doi.org/10.1038/srep31622

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. / Bademci, G.; Cengiz, F. B.; Foster, J.; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Ozkinay, F.; Yildirim-Baylan, M.; Blanton, Susan H; Tekin, Mustafa.

In: Scientific Reports, Vol. 6, 31622, 26.08.2016.

Research output: Contribution to journalArticle

Bademci, G, Cengiz, FB, Foster, J, Duman, D, Sennaroglu, L, Diaz-Horta, O, Atik, T, Kirazli, T, Olgun, L, Alper, H, Menendez, I, Loclar, I, Sennaroglu, G, Tokgoz-Yilmaz, S, Guo, S, Olgun, Y, Mahdieh, N, Bonyadi, M, Bozan, N, Ayral, A, Ozkinay, F, Yildirim-Baylan, M, Blanton, SH & Tekin, M 2016, 'Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss', Scientific Reports, vol. 6, 31622. https://doi.org/10.1038/srep31622
Bademci G, Cengiz FB, Foster J, Duman D, Sennaroglu L, Diaz-Horta O et al. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Scientific Reports. 2016 Aug 26;6. 31622. https://doi.org/10.1038/srep31622
Bademci, G. ; Cengiz, F. B. ; Foster, J. ; Duman, D. ; Sennaroglu, L. ; Diaz-Horta, O. ; Atik, T. ; Kirazli, T. ; Olgun, L. ; Alper, H. ; Menendez, I. ; Loclar, I. ; Sennaroglu, G. ; Tokgoz-Yilmaz, S. ; Guo, S. ; Olgun, Y. ; Mahdieh, N. ; Bonyadi, M. ; Bozan, N. ; Ayral, A. ; Ozkinay, F. ; Yildirim-Baylan, M. ; Blanton, Susan H ; Tekin, Mustafa. / Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. In: Scientific Reports. 2016 ; Vol. 6.
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