Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi
TL;DR
A new genetic variant in the FBN2 gene is linked to congenital contractual arachnodactyly in a patient initially suspected of having Marfan syndrome.
Contribution
A novel FBN2 gene variant is identified and analyzed for its role in congenital contractual arachnodactyly.
Findings
A heterozygous c.3207_3217+9del variant in the FBN2 gene was identified in a patient with CCA.
The variant's pathogenicity was confirmed through cDNA analysis and protein modeling.
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.
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Taxonomy
TopicsConnective tissue disorders research · Congenital heart defects research · Craniofacial Disorders and Treatments