Case Report: A Novel FBN2 Variant in a Congenital Contractural Arachnodactyly Family

A novel heterozygous missense variant (c.3916T > G, p.Y1306D) in the FBN2 gene was identified in a three-generation family with Congenital Contractural Arachnodactyly. The 724.2 KB PDF document, authored by Nan-Miao Wang and last updated in June 2026, details the clinical presentation and genetic analysis of this rare connective tissue disorder. This case report contributes to the known variant spectrum of FBN2, aiding in genetic counseling and molecular diagnostics for CCA.

Use Cases

• Training variant classification models based on the described 'likely pathogenic' ACMG classification criteria.
• Studying genotype-phenotype correlations in rare diseases based on the described clinical heterogeneity within a single family.
• Benchmarking bioinformatics prediction tools using the detailed structural and functional impact analysis of the novel FBN2 variant.

Strengths

• Includes detailed bioinformatics predictions on the variant's impact on protein hydrophobicity, structure, and charge.
• Provides a clear clinical description of three affected patients across three generations, illustrating phenotypic heterogeneity.
• The variant is classified using the established American College of Medical Genetics and Genomics (ACMG) guidelines.

Limitations

• The dataset is a single case report PDF (724.2 KB), representing a very limited sample size of one family.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment for statistical modeling.

Provenance

Source

figshare, authored by Nan-Miao Wang.

Collection Method

Clinical case recruitment and genetic analysis via whole-exome sequencing.

Freshness

Last updated 2026-06-01 04:18:58; freshness should be verified.