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Article

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences - 27 Feb 2026

Gyokova Elitsa, Hristova-Atanasova Eleonora, Kirovakov Zlatko, Dimitrova Kamelia

Abstract excerpt

Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis...

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Source

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Identifiers

PMID: 41828453
DOI: 10.3390/ijms27052227
PMCID: PMC12984705

Genes

COL2A1

Provenance

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

Related research

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Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.PMID 41828453Read ↗

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A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.Semantic proximity Read ↗

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingSemantic proximity Read ↗

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.Semantic proximity Read ↗

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