Human Genome Variation (Feb 2024)

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

  • Mina Nakama,
  • Yuki Miwa,
  • Sayaka Manabe,
  • Shigeru Shimamoto,
  • Hidenori Ohnishi

DOI
https://doi.org/10.1038/s41439-024-00264-1
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 3

Abstract

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Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.