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

A clinical case report describing a family with Congenital Contractural Arachnodactyly (CCA) across three generations. The report details the identification of a novel heterozygous missense variant in the FBN2 gene (c.3916T > G, p.Y1306D) via whole-exome sequencing. The dataset is a 423.7 KB PDF authored by Nan-Miao Wang and shared under a CC-BY-4.0 license.

Use Cases

• Study phenotypic heterogeneity in Congenital Contractural Arachnodactyly (CCA) based on the described family with three affected members.
• Analyze the pathogenicity of novel FBN2 missense variants based on the bioinformatics predictions described for the c.3916T > G variant.
• Compare clinical features of CCA with Marfan syndrome (MFS) based on the discussion of diagnostic challenges mentioned in the report.
• Extend the known variant spectrum of FBN2 for genetic counseling and molecular diagnostics based on the report's conclusion.

Strengths

• Includes detailed clinical presentation and genetic findings for a rare disease family.
• The novel variant is classified as 'likely pathogenic' using ACMG guidelines, providing a clear clinical interpretation.
• The dataset is openly shared under a permissive CC-BY-4.0 license.

Limitations

• The dataset is a single PDF case report (423.7 KB), representing a very limited scope of one family.
• Row count and column-level data are unknown; the content is unstructured narrative text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare

Collection Method

Clinical case study and whole-exome sequencing of a recruited family.

Freshness

Last updated 2026-06-01 04:18:57; freshness should be verified.