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

Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.

Investigative ophthalmology & visual science - 1 Apr 2025

Li Xiaoxia, Wang Siyu, Wang Yuhan, Chen Ruru, Mao Xinjie, Mei Ying, Xu Meiping, Hu Lan, Qin Chuan, Xing Shilai, Yu Xiaoguang, Qiao Liya

Abstract excerpt

Purpose: Variants in the GLRA2 gene have been linked to early-onset and nonsyndromic high myopia with a X-linked inheritance. This study aimed to elucidate clinical and genetic characteristics of GLRA2-associated early-onset high myopia (eoHM). Methods: Variants in 17 genes reported to contribute to eoHM, including GLRA2, were evaluated for pathogenic level based on in silico prediction, associated phenotypes,...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Diseases, X-Linked

Share to Myopia, Degenerative

Share to Pedigree

Share to Refraction, Ocular

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40227176
DOI: 10.1167/iovs.66.4.30
PMCID: PMC12007679

Genes

GLRA2
ARR3
OPN1LW

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

Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.PMID 40227176Read ↗

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.Semantic proximity Read ↗

GLRA2 gene mutations cause high myopia in humans and mice.Semantic proximity Read ↗

Unraveling Pathogenic Variants and the Protein Interaction Landscape in 20 Families with Early-onset high myopiaSemantic proximity Read ↗

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.Semantic proximity Read ↗

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.Semantic proximity Read ↗

Mutation Screening of ARR3, CACNA1F, P4HA2, TRPM1, COL2A1, COL11A1 and PAX6 in a Chinese Cohort of 37 Patients with Early-Onset High Myopia.Semantic proximity Read ↗

A Chinese Family with X-Linked Female-Limited High Myopia Caused by an ARR3 Variant.Semantic proximity Read ↗

Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia SeveritySemantic proximity Read ↗

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.Semantic proximity Read ↗

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.Semantic proximity Read ↗

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Semantic proximity Read ↗

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.Semantic proximity Read ↗

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