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

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.

International journal of pediatric otorhinolaryngology - 1 Nov 2014

Park Moo Kyun, Sagong Borum, Lee Jong Dae, Bae Seung-Hyun, Lee Byeonghyeon, Choi Kwang Shik, Choo Yeon-Sik, Lee Kyu-Yup, Kim Un-Kyung

Abstract excerpt

Hearing loss (HL) is genetically heterogeneous and can be caused by mutations in multiple gene lesions. Pendred syndrome, caused by mutation of SLC26A4, is one of the common causes of recessive syndromic profound HL. Mitochondrial mutation is another rare cause of genetic HL, resulting in late on...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Goiter, Nodular

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Temporal Bone

Share to Vestibular Aqueduct

Source

Identifiers

PMID: 25223473
DOI: 10.1016/j.ijporl.2014.08.009

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25223473-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.PMID 25223473Read ↗

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

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Semantic proximity Read ↗

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.Semantic proximity Read ↗

Novel mutations in the SLC26A4 gene.Semantic proximity Read ↗

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.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 ↗

Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.Semantic proximity Read ↗

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.Semantic proximity Read ↗

Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).Semantic proximity Read ↗

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.Semantic proximity Read ↗

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.Semantic proximity Read ↗

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