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

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

Ophthalmic genetics - 1 Oct 2023

Hikoya Akiko, Hosono Katsuhiro, Ono Kaoru, Arai Shinji, Tachibana Nobutaka, Kurata Kentaro, Torii Kaoruko, Sato Miho, Saitsu Hirotomo, Ogata Tsutomu, Hotta Yoshihiro

Abstract excerpt

BACKGROUND: Axial spondylometaphyseal dysplasia(axial SMD) is associated with early-onset retinal dystrophy and various skeletal dysplasias of varying severity. NEK1 is the causative gene for short rib polydactyly syndrome and axial SMD. Here, we report a case of siblings with juvenile retinitis pigmentosa (RP) and NEK1 variants not associated with systemic disorders. MATERIALS AND METHODS: The patients were a...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteochondrodysplasias

Share to Retinal Dystrophies

Share to Retinitis Pigmentosa

Share to Siblings

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 36341712
DOI: 10.1080/13816810.2022.2141788

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

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.PMID 36341712Read ↗

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.Semantic proximity Read ↗

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.Semantic proximity Read ↗

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in ChinaSemantic proximity Read ↗

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports.Semantic proximity Read ↗

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis PigmentosaSemantic proximity Read ↗

Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.Semantic proximity Read ↗

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.Semantic proximity Read ↗

Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.Semantic proximity Read ↗

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.Semantic proximity Read ↗

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

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.Semantic proximity Read ↗

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.Semantic proximity Read ↗

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