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Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFThe molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Bone
April 2024
Research Centre for Medical Genetics, Moscow, Russian Federation.
Pathogenic single nucleotide variants (SNVs) found in the COL2A1 gene are associated with a broad range of skeletal dysplasias due to their impact on the structure and function of the Col2a1 protein. However, the molecular mechanisms of some nucleotide variants detected during diagnostic testing remain unclear. The interpretation of missense and splicing variants caused by SNVs poses a significant challenge for clinicians.
View Article and Find Full Text PDFIntroduction: Congenital eye diseases have a significant impact on children and young adults. Retinal detachment associated with Kniest dysplasia represents the most severe ocular complication, which is challenging to diagnose and treat effectively. Genetic testing has emerged as an invaluable tool for diagnosing hereditary diseases.
View Article and Find Full Text PDFClinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Genes (Basel)
January 2022
Research Centre for Medical Genetics, Moskvorechye st., 1, 115522 Moscow, Russia.
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing.
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