Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Scientific reports - 26 Aug 2016

Bademci G, Cengiz F B, Foster Ii 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 S H, Tekin M

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connexins
Share to Deafness

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Genetic Heterogeneity

Share to Microphthalmia-Associated Transcription Factor

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to SOXE Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 27562378
DOI: 10.1038/srep31622
PMCID: PMC4999867

Genes

CHD7
SOX10
MITF
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.PMID 27562378Read ↗

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.Semantic proximity Read ↗

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.Semantic proximity Read ↗

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing LossSemantic proximity Read ↗

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.Semantic proximity Read ↗

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing LossSemantic proximity Read ↗

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.Semantic proximity Read ↗

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossSemantic proximity Read ↗

High-throughput sequencing to decipher the genetic heterogeneity of deafness.Semantic proximity Read ↗

Genomic Landscape and Mutational Signatures of Deafness-Associated GenesSemantic proximity Read ↗

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approachSemantic proximity Read ↗

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical PracticeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.