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

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Jul 2021

Frohne Alexandra, Koenighofer Martin, Liu David Tianxiang, Laccone Franco, Neesen Juergen, Gstoettner Wolfgang, Schoefer Christian, Lucas Trevor, Frei Klemens, Parzefall Thomas

Abstract excerpt

INTRODUCTION: Genetic hearing loss (HL) is often monogenic. Whereas more than half of autosomal recessive (AR) cases in Austria are caused by mutations in a single gene, no disproportionately frequent contributing genetic factor has been identified in cases of autosomal dominant (AD) HL. The genetic characterization of HL continues to improve diagnosis, genetic counseling, and lays a foundation for the...

Read the complete abstract on PubMed

Topics

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

Share to Austria
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Mutation

Share to Pedigree

Share to Prevalence

Source

Identifiers

PMID: 33710140
DOI: 10.1097/MAO.0000000000003076

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.PMID 33710140Read ↗

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.Semantic proximity Read ↗

Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.Semantic proximity Read ↗

Research Progress of MYO6 Variant-Associated Hereditary Hearing Loss.Semantic proximity Read ↗

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.Semantic proximity Read ↗

De novo variants are a common cause of genetic hearing loss.Semantic proximity Read ↗

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.Semantic proximity Read ↗

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families.Semantic proximity Read ↗

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Semantic proximity Read ↗

Different contribution of missense and loss-of-function variants to the genetic structure of familial and sporadic Meniere diseaseSemantic proximity Read ↗

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Semantic proximity Read ↗

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