【摘要】 Ⅵ型成骨发育不全(OI)是由于SERPINF1基因突变致其编码的色素上皮衍生因子(PEDF)水平低下，从而导致骨矿化不足和矿化时间延长的一种罕见常染色体隐性遗传的单基因遗传病。本文对1例疑似Ⅵ型OI的女性患者及其家系进行了全外显子组基因测序和家系分析，结果显示患者SERPINF1基因NM＿002615.5:c.786G>A(p.Lys262Lys)突变，该突变属于同义突变，符合常染色体隐性遗传模式。分析该致病基因的致病性和保守性后，最终通过辅助生殖技术帮助该患者生育了健康的后代。本研究报道了SERPINF1基因的新突变，丰富了OI的表型，补充了人类SERPINF1基因的突变数据库，为进一步研究Ⅵ型OI的基因型-表型相关性和未来对于此疾病的遗传咨询等提供依据。更多还原

【Abstract】 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 OI 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 SERPINF1 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.更多还原