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.
郝会民,沈凌花,张英娴,等
. Analysis of clinical characteristics and gene variation of type 2 Bruck syndrome caused by PLOD2 gene mutation[J]. Journal of Clinical Pediatrics, 2021
, 39(11)
: 843
.
DOI: 10.3969/j.issn.1000-3606.2021.11.012