ArticleMolecular genetics and metabolism reports2025
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.
Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Article
- Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.Frontiers in medicine · 2026Article
- Mitochondrial tRNAHuman mutation · 2026Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
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Authors and funding
7 authors.
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Abstract
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 Methods: We identified a novel pathogenic missense variant (c.3472G > C, p.Asp1158His) in exon 26 of the Results: The likely pathogenic missense mutation (c.3472G > C) results in the amino acid at position 1158 of the Conclusion: This study enriches the pathogenic spectrum of CCA. Our research provides new insights for the diagnosis of CCA and may have an impact on genetic counseling.
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