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

G Bademci; F B Cengiz; J Foster Ii; 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

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

Journal article

Open access

Peer reviewed

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

G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, …

Scientific reports, Vol.6(1), pp.31622-31622

2016-08-26

DOI: https://doi.org/10.1038/srep31622

PMCID: PMC4999867

PMID: 27562378

Abstract

Genetic Predisposition to Disease

Deafness - genetics

Humans

Child, Preschool

Connexins - genetics

Male

DNA-Binding Proteins - genetics

Genetic Heterogeneity

Syndrome

Exome

Genetic Variation

Pedigree

Adolescent

Female

Mutation

Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics

Neoplasm Proteins - genetics

Child

DNA Helicases - genetics

Microphthalmia-Associated Transcription Factor - genetics

Cohort Studies

SOXE Transcription Factors - genetics

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.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.150 Hearing Loss; 1.150.421 Cochlea
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Creators: G Bademci - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
F B Cengiz - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
J Foster Ii - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
D Duman - Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, 06620, Turkey
L Sennaroglu - Department of Otolaryngology, Hacettepe University School of Medicine, Ankara, 06100, Turkey
O Diaz-Horta - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
T Atik - Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey
T Kirazli - Department of Otolaryngology, Ege University School of Medicine, Izmir, 35040, Turkey
L Olgun - Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey
H Alper - Department of Radiology, Ege University School of Medicine, Izmir, 35040, Turkey
I Menendez - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
I Loclar - Koc University School of Medicine, Istanbul, 34450, Turkey
G Sennaroglu - Department of Audiology, Hacettepe University Health Sciences Faculty, Ankara, 06100, Turkey
S Tokgoz-Yilmaz - Department of Audiology, Hacettepe University Health Sciences Faculty, Ankara, 06100, Turkey
S Guo - John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA
Y Olgun - Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey
N Mahdieh - Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
M Bonyadi - Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran
N Bozan - Department of Otolaryngology, Faculty of Medicine, Yuzuncu Yıl University, Van, 65080, Turkey
A Ayral - Department of Otolaryngology, Faculty of Medicine, Yuzuncu Yıl University, Van, 65080, Turkey
F Ozkinay - Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey
M Yildirim-Baylan - Department of Otorhinolaryngology, Dicle University School of Medicine, Diyarbakir, 21280, Turkey
S H Blanton - Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Otolaryngology, University of Miami, Miami, 33136, FL, USA
M Tekin - Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Otolaryngology, University of Miami, Miami, 33136, FL, USA
Publication Details: Scientific reports, Vol.6(1), pp.31622-31622
Publisher: England
Grant note: R01 DC012836 / NIDCD NIH HHS R01 DC009645 / NIDCD NIH HHS
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 27562378
PMCID: PMC4999867
Record Identifier: 991031576933202976