Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families.

ABSTRACT:

Background

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.

Methods

Next-generation sequencing analysis and Sanger sequencing of exons 24-35 of FBN2 (NM_001999.4) were performed on the three CCA pedigrees. The pathogenicity of the variants was assessed using ACMG criteria and predicted using an in-silico program.

Results

A novel heterozygous substitution (NM_001999.4: c.3230G > A; NP_001990.2 p. Cys1077Tyr) was identified in all patients from pedigree A, but not in healthy family members. The variant was found to be pathogenic. Additionally, in pedigree B (NM_001999.4: c.4222G > A; NP

SUBMITTER: Sui Y 

PROVIDER: S-EPMC11414699 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature