A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report

• Published in: Heliyon Vol. 10; no. 7; p. e28680
• Main Authors: Shang, Liyuan, Shi, Weizhe, Xu, Yibo, Nong, Tianying, Li, Xia, Li, Zhaohui, Liu, Yanhan, Li, Jingchun, Tang, Ya-Ping, Zhu, Mingwei, Xu, Hongwen
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 15.04.2024; Elsevier
• Subjects: acid treatment; bone density; bone formation; boys; Bruck syndrome; Case Report; case studies; China; computer simulation; contracture; exons; FKBP10; heterozygosity; Osteogenesis imperfecta; osteopenia; pathogenicity; patients; stop codon; Whole-exome sequencing; China; Osteogenesis imperfecta; FKBP10; Bruck syndrome; Case report; Whole-exome sequencing

Bruck syndrome (BS) is an extremely rare autosomal-recessive connective tissue disorder mainly characterized by bone fragility, congenital joint contracture, and spinal deformity. It is also considered as a rare form of osteogenesis imperfecta (OI) due to features of osteopenia and fragility fractur...