Letter to the editor of Heliyon re: A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: a case report. [Heliyon 2024; 10(7): e28680]

The recent article by Shang et al. [1] details a case involving osteopenia, fragility fractures, lumbar kyphosis, and dentinogenesis imperfecta (DI), but notably absent are congenital joint contractures. Yet, the case is classified as “Bruck syndrome type 1 (BS1) without congenital joint contractures or OI type XI.” This classification hinges on identified genetic mutations in the FKBP10 gene, specifically a novel compound heterozygous variation including mutations c.23dupG and c.825dupC, which lead to frameshift and premature stop codons.