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

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.

BMC medical genomics - 11 Apr 2026

Sun Lei, Shu Defeng, He Wencong, Ma Ruilin, Tao Hui, Yang Zejun, Li Yanan, Liu Ziyang, Zhang Yang, Zhao Yin

Abstract excerpt

BACKGROUND: Branchio-oto-renal (BOR; MIM 113650) syndrome is primarily linked to pathogenic variants in the EYA1 gene. Although over 200 pathogenic variants of the EYA1 gene have been reported, validation of the pathogenicity of novel variants and the aggregation of prenatal phenotypes are crucial to guide prenatal diagnosis. METHODS: This study analyzed the clinical and genetic data of a fetus presenting with...

Topics

Join the communities discussing this publication.

Branchio-Oto-Renal Syndrome
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Phenotype
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Protein Tyrosine Phosphatases

Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 41965611
DOI: 10.1186/s12920-026-02366-x
PMCID: PMC13191876

Genes

EYA1

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

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome.PMID 41965611Read ↗

Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.Semantic proximity Read ↗

Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.Semantic proximity Read ↗

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.Semantic proximity Read ↗

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.Semantic proximity Read ↗

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Semantic proximity Read ↗

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.Semantic proximity Read ↗

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Semantic proximity Read ↗

From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.Semantic proximity Read ↗

Otofaciocervical Syndrome and Its Overlap with Branchio‐Otorenal Spectrum: An Integrated Literature Analysis of EYA1‐Related Disorders, Including a Novel Case with an 8q13.2q13.3 DeletionSemantic proximity Read ↗

[Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family].Semantic proximity Read ↗

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.Semantic proximity Read ↗

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