Article

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease

2024-02-13

Abstract excerpt

Childhood glaucoma encompasses congenital and juvenile primary glaucoma, which are heterogeneous, uncommon, and irreversible optic neuropathies leading to visual impairment with poorly understood genetic basis. Our goal was to identify gene variants associated with these glaucoma types by assessing the mutational burden in 76 matrix metalloproteinase-related genes. We studied 101 childhood glaucoma patients with n...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4d7a9ccb-5c8d-5f33-b872-9b729815df7b
DOI: 10.20944/preprints202402.0752.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the DiseaseDOI 10.20944/preprints202402.0752.v1Read

The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.Semantic proximity Read

A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary GlaucomaSemantic proximity Read

Common and rare genetic risk factors for glaucoma.Semantic proximity Read

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.Semantic proximity Read

Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem InvolvementSemantic proximity Read

Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.Semantic proximity Read

Zebrafish <i>adamtsl4</i> knockout recapitulates key features of human <i>ADAMTSL4</i> -related diseases: a gene involved in extracellular matrix organization, cell junctions and developmentSemantic proximity Read

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.Semantic proximity Read

[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].Semantic proximity Read

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.Semantic proximity Read

Childhood glaucoma: Implications for genetic counselling.Semantic proximity Read

A Rare Case of Childhood Glaucoma Resulting from Anterior Segment Dysgenesis Associated with a Homozygous Mutation in the CPAMD8 Gene.Semantic proximity Read