Osteogenesis imperfecta(OI)Type Ⅵ is a rare autosomal recessive monogenic disorder due to mutations in SERPINF1 gene causing low levels of the pigment epithelium-derived factor(PEDF)that it encodes,which leads to insufficient bone mineralization and prolonged mineralization time.The whole exome gene sequencing and family lineage analysis of a female patient with suspected O1 type Ⅵ and her family lineage were conducted and the results showed that the patient had the NM_002615.5:c.786G＞A(p.Lys262Lys)mutation in SERPINF1 gene,which was a synonymous mutation and inherited through autosomal recessive manner.The pathogenicity and conservatism of the causative gene were analyzed,then assisted reproductive technology was used and the patient delivered her healthy offspring.This study reports a new mutation in SERP INF1 gene,which enriches the phenotype of OI and complements the mutation database of the human SERPINF1 gene,providing a new pathway for further research on the genotype-phenotype correlation of OI type Ⅵ and future genetic counseling for this disease.
维普
万方数据