Pedigree analysis and prenatal diagnosis in a family with congenital ectopia lentis
10.3969/j.issn.1006-5725.2025.06.008
- VernacularTitle:先天性晶状体脱位家系的基因突变分析与产前诊断
- Author:
Guixian PAN
1
;
Sitao LI
;
Hu HAO
;
Wei LIU
;
Qiuping YANG
;
Xin XIAO
;
Yao CAI
Author Information
1. 中山大学附属第六医院儿科(广东 广州 510655)
- Publication Type:Journal Article
- Keywords:
FBN1 gene;
congenital isolated ectopia lentis;
prenatal diagnosis;
pedigree;
infant
- From:
The Journal of Practical Medicine
2025;41(6):824-828
- CountryChina
- Language:Chinese
-
Abstract:
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 clini-cal 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)muta-tion was identified as the pathogenic variant responsible for the condition in this family,exhibiting autosomal domi-nant 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 in-terventions and follow-up care.
