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

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.

BMC medical genomics - 25 May 2022

Gu Ping, Wang Guojian, Gao Xue, Kang Dongyang, Dai Pu, Huang Shasha

Abstract excerpt

BACKGROUND: The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified a family with a de novo A1555G mutation. METHOD: Based on detailed mtDNA analyses of the family members using...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Deafness
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 35614445
DOI: 10.1186/s12920-022-01276-y
PMCID: PMC9131558

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.PMID 35614445Read ↗

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

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

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

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.Semantic proximity Read ↗

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.Semantic proximity Read ↗

[Mitochondrial DNA A1555G mutation analysis in 802 nonsyndromic hearing impairment patients].Semantic proximity Read ↗

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

Analysis of the ratio of mitchondrial DNA with A1555G mutant to wild type in deaf patients of Fujian province in China by a new method and its relationship with the severity of hearing loss.Semantic proximity Read ↗

Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening.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 ↗

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