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

Genomic study of a large family with complex neurological phenotype including hearing loss, imbalance and action tremor.

Neurobiology of aging - 1 May 2022

Bally Julien F, Zhang Ming, Dwosh Emily, Sato Christine, Rutka John, Lang Anthony E, Rogaeva Ekaterina

Abstract excerpt

Neurological disorders are often associated with a variety of symptoms, which can result from the combined action of genetic variants. We conducted a whole-genome analysis of a previously unreported unique multigenerational Dutch-Canadian family with a complex phenotype presenting with a combination of hearing loss, balance issues or action tremor. Ten family members were available for genetic study. The hearing...

Read the complete abstract on PubMed

Topics

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

Share to Canada
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Tremor

Source

Identifiers

PMID: 35063306
DOI: 10.1016/j.neurobiolaging.2021.12.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic study of a large family with complex neurological phenotype including hearing loss, imbalance and action tremor.PMID 35063306Read ↗

MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.Semantic proximity Read ↗

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.Semantic proximity Read ↗

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.Semantic proximity Read ↗

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.Semantic proximity Read ↗

A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigoSemantic proximity Read ↗

Hereditary Otovestibular Dysfunction and M??ni??re's Disease in a Large Belgian Family Is Caused by a Missense Mutation in the COCH GeneSemantic proximity Read ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic proximity Read ↗

GWAS and multimodal transcriptomic profiling of human otolithic organs characterize the genetic architecture of balance in the elderlySemantic proximity Read ↗

Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers.Semantic proximity Read ↗

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation.Semantic proximity Read ↗

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.Semantic proximity Read ↗

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.Semantic proximity Read ↗

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