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

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.

Acta oto-laryngologica - 1 Sept 2011

Men Meichao, Jiang Lu, Wang Honghan, Liu Yalan, Hu Zhengmao, He Chufeng, Feng Yong

Abstract excerpt

CONCLUSIONS: Analysis of the complete mtDNA genome and X-linkage of this five-generation Chinese family revealed that the 1555A > G mutation may lead to deafness. OBJECTIVES: Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. However, the variable clinical phenotype and incomplete penetrance of mtDNA 1555A > G-induced hearing loss complicate our understanding...

Read the complete abstract on PubMed

Topics

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

Share to Aminoglycosides
Share to Connexin 26

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

Share to Deafness

Share to Genes, X-Linked

Share to Penetrance

Share to POU Domain Factors

Share to RNA, Ribosomal

Share to Sex Chromosome Aberrations

Source

Identifiers

PMID: 21504270
DOI: 10.3109/00016489.2011.575794

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.PMID 21504270Read ↗

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss.Semantic proximity Read ↗

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.Semantic proximity Read ↗

Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family.Semantic proximity Read ↗

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.Semantic proximity Read ↗

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Semantic proximity Read ↗

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.Semantic proximity Read ↗

Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families.Semantic proximity Read ↗

Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation.Semantic proximity Read ↗

Audiological and genetic features of the mtDNA mutations.Semantic proximity Read ↗

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.Semantic proximity Read ↗

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].Semantic proximity Read ↗

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.Semantic proximity Read ↗

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