Gynecol Obstet Invest. 2020;85(2):149-152. doi: 10.1159/000370196. Epub 2015 Jan 27.
To analyze COL1A1/2 mutations in prenatal-onset OI for determine the proportion of mutations in type I collagen genes among prenatal onset OI and to provide additional data for genotype-phenotype analyses.
Ten cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to our center. Before the termination of pregnancy, cordocentesis was performed for fetal karyotype and COL1A1/2 gene sequencing analysis. Postmortem radiographic examination was performed at all instances for definitive diagnosis.
COL1A1 and COL1A2 SNP and mutations were identified in all the cases. Among these, one synonymous SNP and four synonymous SNPs were recognized in COL1A1/2, respectively, seven cases have distinct heterozygous mutations and six new COL1A1/2 gene mutations were identified.
There has been substantial progress in the identification of the molecular defects responsible for skeletal dysplasias. With the constant increase in the number of identified mutations in COL1A1 and COL1A2, genotype-phenotype correlation is becoming increasingly pertinent.
分析产前起病型成骨不全症（OI）中 COL1A1/2 突变，以确定 I 型胶原基因突变在产前起病型 OI 中的比例，并为基因型-表型分析提供更多数据。
产前超声检查发现 10 例严重胎儿短肢侏儒症，转诊至本中心。在终止妊娠前，进行脐带穿刺术以进行胎儿染色体核型分析和 COL1A1/2 基因测序分析。所有病例均进行死后放射学检查以明确诊断。
所有病例均发现 COL1A1 和 COL1A2 SNP 和突变。其中，COL1A1/2 分别识别出一个同义 SNP 和四个同义 SNPs，7 例存在明显的杂合突变，并且确定了 6 个新的 COL1A1/2 基因突变。
在确定骨骼发育不良的分子缺陷方面已经取得了重大进展。随着 COL1A1 和 COL1A2 中鉴定出的突变数量不断增加，基因型-表型相关性变得越来越重要。
