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. Ayral; F. Ozkinay; M. Yildirim-Baylan; S. H. Blanton; M. Tekin

doi:10.1038/srep31622

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. Ayral

F. Ozkinay, M. Yildirim-Baylan, S. H. Blanton, M. Tekin

University of Miami
Ankara University
Ege University
University of Health Sciences
Koc University
Hacettepe University
Iran University of Medical Sciences
University of Tabriz
Yuzuncu Yil University
Dicle University

Araştırma sonucu: Dergiye katkı › Makale › bilirkişi

40 Alıntılar (Scopus)

Özet

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.

Orijinal dil	İngilizce
Makale numarası	31622
Dergi	Scientific Reports
Hacim	6
DOI'lar	https://doi.org/10.1038/srep31622
Yayın durumu	Yayınlandı - 26 Ağu 2016

Belgeye Erişim

10.1038/srep31622

Diger dosyalar ve linkler

Link to publication in Scopus

Bundan alıntı yap

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., ... Tekin, M. (2016). Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Scientific Reports, 6, Makale 31622. https://doi.org/10.1038/srep31622

@article{094c3a2e3ff041faa274a74d7041dcf2,

title = "Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss",

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.",

author = "G. Bademci and Cengiz, \{F. B.\} and J. Foster and D. Duman and L. Sennaroglu and O. Diaz-Horta and T. Atik and T. Kirazli and L. Olgun and H. Alper and I. Menendez and I. Loclar and G. Sennaroglu and S. Tokgoz-Yilmaz and S. Guo and Y. Olgun and N. Mahdieh and M. Bonyadi and N. Bozan and A. Ayral and F. Ozkinay and M. Yildirim-Baylan and Blanton, \{S. H.\} and M. Tekin",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2016.",

year = "2016",

month = aug,

day = "26",

doi = "10.1038/srep31622",

language = "English",

volume = "6",

journal = "Scientific Reports",

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publisher = "Nature Research",

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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, hac. 6, 31622. https://doi.org/10.1038/srep31622

TY - JOUR

T1 - Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

AU - Bademci, G.

AU - Cengiz, F. B.

AU - Foster, J.

AU - Duman, D.

AU - Sennaroglu, L.

AU - Diaz-Horta, O.

AU - Atik, T.

AU - Kirazli, T.

AU - Olgun, L.

AU - Alper, H.

AU - Menendez, I.

AU - Loclar, I.

AU - Sennaroglu, G.

AU - Tokgoz-Yilmaz, S.

AU - Guo, S.

AU - Olgun, Y.

AU - Mahdieh, N.

AU - Bonyadi, M.

AU - Bozan, N.

AU - Ayral, A.

AU - Ozkinay, F.

AU - Yildirim-Baylan, M.

AU - Blanton, S. H.

AU - Tekin, M.

PY - 2016/8/26

Y1 - 2016/8/26

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84984664039

U2 - 10.1038/srep31622

DO - 10.1038/srep31622

M3 - Article

C2 - 27562378

AN - SCOPUS:84984664039

SN - 2045-2322

VL - 6

JO - Scientific Reports

JF - Scientific Reports

M1 - 31622

ER -

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

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