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Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.

Juan Zhao^1,2, Xiaolan Zhong¹, Lijun Du¹

¹Huadu District People's Hospital of Guangzhou, Guangzhou, Guangdong, China.

Genetics Research

|June 16, 2026

Summary

Congenital contractural arachnodactyly (CCA) is caused by FBN2 gene variants. This study identifies two novel FBN2 variants in Chinese families, expanding the known mutation spectrum for CCA.

Keywords:

FBN2 congenital contractural arachnodactyly connective tissue genetic counseling novel variants

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Area of Science:

Genetics
Molecular Biology
Medical Genetics

Background:

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder.
CCA presents with arachnodactyly, joint contractures, and scoliosis, overlapping with Marfan syndrome.
Pathogenic variants in the fibrillin 2 (FBN2) gene are the known cause of CCA.

Purpose of the Study:

To investigate the genetic basis of CCA in two unrelated Chinese families.
To identify novel pathogenic variants in the FBN2 gene associated with CCA.
To contribute to understanding the genotype-phenotype relationship in CCA.

Main Methods:

Whole-exome sequencing (WES) was performed on affected individuals and unaffected family members.
Genetic variants were identified and analyzed for their association with CCA.
Segregation analysis and parental testing were conducted to confirm variant inheritance and mosaicism.

Main Results:

A novel in-frame deletion variant (c.4195_4209del, p.Trp1399_Gly1403del) in FBN2 Exon 32 was identified in affected individuals from the first family.
A novel missense variant (c.3521G>A, p.Cys1174Tyr) in FBN2 Exon 27 was identified in an infant diagnosed with CCA, inherited from her mother with low-level mosaicism.
These findings expand the known spectrum of FBN2 mutations in CCA.

Conclusions:

The study identified two novel FBN2 variants associated with CCA in Chinese families.
This expands the mutational landscape of FBN2 and aids in understanding CCA's genetic basis.
The findings support genetic diagnosis, counseling, and management strategies for CCA patients.