Molecular Diagnosis and Prenatal Counseling of a Chinese Family with Spondyloepiphyseal Dysplasia congenital

Aim: To identify the gene mutation and complete prenatal counseling in a Chinese family with spondyloepiphyseal dysplasia congenital (SEDC). Materials and Methods: A Chinese family with SEDC was enrolled. Their detailed clinical features, skeletal radiographic features, and laboratory results were obtained. The peripheral blood samples of the family members were used for the targeted next-generation sequencing (NGS), and Sanger sequencing confirmation. Bioinformatics analysis and genotype-phenotype correlation analysis were used to identify the gene mutation. Amniocentesis, fetal chromosome analysis and Sanger sequencing were completed for prenatal diagnosis. Results: A missense mutation c.3392G>T (p. Gly1131Val) of COL2A1 was found in the proband and the fetus. The mutation was confirmed to be likely pathogenic and would damage the structure of stable triple-helical type II collagen. Conclusion: A novel pathogenic c.3392G>T (p. Gly1131Val) mutation in COL2A1 leading to SEDC was identified, which expanded the genotypic spectrum and phenotypic spectrum of SEDC. In addition, we wish to emphasize that prenatal diagnosis and genetic counseling should be carried out in a family with SEDC for better procreative management.