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

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

PloS one - 1 Jan 2014

Gao Xue, Wang Guo-Jian, Yuan Yong-Yi, Xin Feng, Han Ming-Yu, Lu Jing-Qiao, Zhao Hui, Yu Fei, Xu Jin-Cao, Zhang Mei-Guang, Dong Jiang, Lin Xi, Dai Pu

Abstract excerpt

Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the targeted capture of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Myosin VIIa

Share to Myosins

Share to Pedigree

Share to Sequence Homology, Amino Acid

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 25080338
DOI: 10.1371/journal.pone.0103415
PMCID: PMC4117490

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.PMID 25080338Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.Semantic proximity Read ↗

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.Semantic proximity Read ↗

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.Semantic proximity Read ↗

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.Semantic proximity Read ↗

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report.Semantic proximity Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Semantic proximity Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.Semantic proximity Read ↗

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.Semantic proximity Read ↗

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