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

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

Scientific reports - 10 Aug 2024

Di Iorio Enzo, Adamo Ginevra Giovanna, Sorrentino Ugo, De Nadai Katia, Barbaro Vanessa, Mura Marco, Pellegrini Marco, Boaretto Francesca, Tavolato Marco, Suppiej Agnese, Nasini Francesco, Salviati Leonardo, Parmeggiani Francesco

Abstract excerpt

Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Frameshift Mutation

Share to Genes, Dominant

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 39127808
DOI: 10.1038/s41598-024-69640-9
PMCID: PMC11316741

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.PMID 39127808Read ↗

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) geneSemantic proximity Read ↗

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Semantic proximity Read ↗

Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum.Semantic proximity Read ↗

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.Semantic proximity Read ↗

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.Semantic proximity Read ↗

Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Semantic proximity Read ↗

Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.Semantic proximity Read ↗

Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Semantic proximity Read ↗

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

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