先天性晶状体脱位家系的基因突变分析与产前诊断  

Pedigree analysis and prenatal diagnosis in a family with congenital ectopia lentis

作　　者：潘桂贤 李思涛[1,3] 郝虎 刘维[1] 杨秋萍 肖昕 蔡尧 PAN Guixian;LI Sitao;HAO Hu;LIU Wei;YANG Qiuping;XIAO Xin;CAI Yao(Department of Pediatrics,the Sixth Affiliated Hospital,Sun Yat-sen University,Guangzhou 510655,Guangdong,China;不详)

机构地区：[1]中山大学附属第六医院儿科,广东广州510655 [2]中山大学附属第六医院小儿遗传代谢病实验室,广东广州510655 [3]广州市黄埔区中六生物医学创新研究院,广东广州510655

出　　处：《实用医学杂志》2025年第6期824-828,共5页The Journal of Practical Medicine

基　　金：广东省科技计划项目(编号:2020A1414010111)。

摘　　要：目的针对一例产前诊断FBN 1基因突变新生儿家系的临床特征,探讨一个产前诊断FBN 1基因突变新生儿家系的基因突变与其临床表现间的关系,分析产前诊断的重要性,为后续随访和干预治疗提供依据。方法通过采集孕母羊水及父母外周血标本,提取基因组DNA,行全外显子高通量测序,对候选变异进行Sanger测序验证及生物学信息分析。结果该家系成员共有4代9人,有症状者4例,骨骼表现均为四肢指趾修长,3例眼部受累表现为先天性晶体脱位或晶状体半脱位,无心血管系统临床表现。有症状者基因检测均提示FBN 1基因c.6158 G>T杂合突变。结论FBN 1基因c.6158 G>T杂合突变为该家系的致病突变,为常染色体显性遗传,该位点突变导致第2053号氨基酸由胱氨酸变异为苯丙氨酸,为我国人群中的首次报道。产前诊断有助于早期明确诊断,为后续干预治疗及随访提供依据。Objective To analyze the clinical characteristics associated with prenatal diagnosis of FBN 1 gene mutations in a family.This study explores the correlation between gene mutations and their corresponding clinical phenotypes,emphasizing the significance of prenatal diagnosis in providing a foundation for subsequent follow-up and intervention.Methods Genomic DNA was extracted from the amniotic fluid of the fetus and the peripheral blood of the parents for trio-whole exome sequencing.The candidate variant identified was subsequently validated using Sanger sequencing.Results The pedigree comprised four generations and nine family members,with four individuals exhibiting slender limbs and toes.Among these,three showed congenital lens dislocation or subluxation.No abnormalities in the cardiovascular system were observed.Genetic testing of symptomatic individuals revealed a heterozygous mutation(c.6158G>T)in the FBN 1 gene.Conclusions The FBN 1 c.6158G>T(p.C2053F)mutation was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal dominant inheritance.To our knowledge,this is the first reported case of the FBN 1 c.6158G>T(p.C2053F)mutation in China.Prenatal diagnosis can facilitate early confirmation of the condition and provide a foundation for subsequent interventions and follow-up care.

关 键 词：FBN 1基因 先天性晶状体脱位 产前诊断 家系 新生儿 

分 类 号：R72[医药卫生—儿科]