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

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.

Investigative ophthalmology & visual science - 5 Jan 2026

Liu Shu, Li Shiqiang, Wang Yingwei, Sun Wenmin, Hejtmancik J Fielding, Zhang Qingjiong

Abstract excerpt

Purpose: Variants in the FERM domain containing protein 7 gene (FRMD7) constitute one of the most common etiologies underlying idiopathic infantile nystagmus (IIN). This study aimed to clarify the pathogenicity of FRMD7 variants and their associated clinical features based on in-house databases and a literature review. Methods: Families with various genetic eye diseases were collected, and exome sequencing was...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Diseases, X-Linked

Share to Membrane Proteins

Share to Nystagmus, Congenital

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 41532703
DOI: 10.1167/iovs.67.1.30
PMCID: PMC12811896

Genes

FRMD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.PMID 41532703Read ↗

Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations.Semantic proximity Read ↗

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.Semantic proximity Read ↗

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.Semantic proximity Read ↗

Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus.Semantic proximity Read ↗

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Semantic proximity Read ↗

Clinical utility gene card for FRMD7-related infantile nystagmus.Semantic proximity Read ↗

The Role of FRMD7 in Idiopathic Infantile NystagmusSemantic proximity Read ↗

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.Semantic proximity Read ↗

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.Semantic proximity Read ↗

Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene.Semantic proximity Read ↗

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