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Article

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2025

Deng Mei, Shen Fang, Zheng Yu, Liu Cheng, Luo Zhenqing, Wu Xinghan, Zhu Guanghui, Zhao Sha, Wang Hua, Yang Yongjia

Abstract excerpt

PURPOSE: FBN2, a high-confidence effector gene for osteoarthritis (OA), was investigated for its potential role in synostosis of joints (SJ) because several OA-related genes are known to cause SJ. METHODS: We analyzed variants in OA-related genes using exome sequencing data from Chinese-Han participants with radioulnar synostosis (RUS). Variants were classified following American College of Medical Genetics and...

Read the complete abstract on PubMed

Topics

Fibrillin-2
Humans
Animals
Mice
Mice, Knockout
Synostosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Female

Mutation

Cell Differentiation

Osteoarthritis

Extracellular Matrix

Joints

Exome Sequencing

Osteoblasts

Middle Aged

Pedigree

Adult

Source

Identifiers

PMID: 40709559
DOI: 10.1016/j.gim.2025.101537

Genes

FBN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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