Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity - Takeaways - MDSpire

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity

  • By

  • Nan-Miao Wang

  • Zhen-Bo Cheng

  • Xuan Yu

  • Ying-Nan Wang

  • Ze-Xuan Wang

  • Rui-Cheng Yao

  • Xin Jin

  • Jie-Yuan Jin

  • June 1, 2026

  • 0 min

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  • 1

    Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by variants in the FBN2 gene.

  • 2

    A novel heterozygous missense variant in FBN2 (c.3916T > G, p.Y1306D) was identified in a family with CCA.

  • 3

    The identified FBN2 variant was classified as 'likely pathogenic' based on American College of Medical Genetics guidelines.

  • 4

    The proband exhibited Marfanoid features, including arachnodactyly and joint contractures, consistent with CCA.

  • 5

    This study contributes to genetic counseling and diagnostics for CCA by expanding the known spectrum of FBN2 variants.

Original Source(s)

Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity

  • by Nan-Miao Wang, Zhen-Bo Cheng, Xuan Yu, Ying-Nan Wang, Ze-Xuan Wang, Rui-Cheng Yao, Xin Jin, Jie-Yuan Jin

  • June 1, 2026

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