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

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.

Journal of cellular and molecular medicine - 1 Jul 2020

Fu Jiewen, Shen Shiyi, Cheng Jingliang, Lv Hongbin, Fu Junjiang

Abstract excerpt

Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing deficiencies and retinitis pigmentosa. The mechanisms underlying the Usher syndrome are highly variable. In the present study, a Chinese family with Usher syndrome was recruited. Whole exome sequencing (WES), Sanger sequencing, homozygosity mapping, short tandem repeat (STR) analysis and...

Topics

Join the communities discussing this publication.

Computational Biology
Extracellular Matrix Proteins
Frameshift Mutation
Homozygote
Maternal Inheritance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Uniparental Disomy

Usher Syndromes

Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32449591
DOI: 10.1111/jcmm.15405
PMCID: PMC7348175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.PMID 32449591Read ↗

Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Semantic proximity Read ↗

Whole-exome sequencing revealed two novel mutations in Usher syndrome.Semantic proximity Read ↗

Novel mutations of the USH2A gene and clinical phenotypes in Chinese Usher syndrome familiesSemantic proximity Read ↗

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.Semantic proximity Read ↗

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.Semantic proximity Read ↗

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

USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.Semantic proximity Read ↗

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.Semantic proximity Read ↗

A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature ReviewSemantic proximity Read ↗

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.Semantic proximity Read ↗

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.Semantic proximity Read ↗

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