关键词: PLOD 2基因； Bruck综合征2型； 多发骨折； 先天性关节挛缩； 双膦酸盐

Abstract: Objective To investigate the clinical characteristics and mutation spectrum of children with type 2 Bruck syndrome caused by PLOD2 gene mutations. Methods The clinical data of a patient with Bruck syndrome type 2 were retrospective analyzed, and the relevant literature was reviewed. Results A male patient, 1 year and 8 months old, visited the clinic after birth due to congenital joint contracture and repeated fractures. Next-generation sequencing revealed a complex heterozygous variant of c. 1829 G>C and c. 1559 dupC in the PLOD 2 gene, which were derived from his unaffected mother and father, respectively. C. 1829 G>C was a likely pathogenic variant, which had not been reported in HGMD and ClinVar database. Conclusion The novel variant c. 1829 G>C expands the mutation spectrum of PLOD 2 gene. Multiple fractures and congenital joint contracture are the main clinical features of type 2 Bruck syndrome caused by PLOD 2 gene mutation, and early diagnosis and bisphosphonate therapy may improve prognosis of this condition.

Key words: PLOD2 gene; type 2 Bruck syndrome; multiple fractures; congenital joint contracture; bisphosphonate