Clinical laboratory genetic diagnosis of Marfan syndrome
10.3760/cma.j.cn114452-20221119-00694
- VernacularTitle:马方综合征临床实验室基因诊断
- Author:
Tao LI
1
;
Fuyuan WANG
;
Xue LYU
;
Xiaoyu WANG
;
Poshi XU
;
Hongyan LIU
;
Hao LI
Author Information
1. 河南省人民医院医学检验科 阜外华中心血管病医院医学检验科 郑州大学华中阜外医院医学检验科，郑州 451464
- Keywords:
Marfan syndrome;
FBN1 gene;
Gene diagnosis;
Prenatal diagnosis;
High-throughput sequencing;
Sanger sequencing
- From:
Chinese Journal of Laboratory Medicine
2023;46(5):451-457
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To establish the clinical laboratory genetic diagnosis procedures for Marfan syndrome (MFS) and carry out clinical laboratory genetic diagnosis for MFS families.Methods:The second generation high-throughput sequencing was used to sequence and analyze the FBN1 gene of two MFS families who visited to Fuwai Central China Cardiovascular Hospital (Heart Center of Henan People′s Hospital) from January to December 2020, and then Sanger sequencing was used to verify the second generation high-throughput sequencing results. At the same time, the sanger sequencing of mutation sites was performed on normal family members and 100 healthy people to identify the pathogenic mutations of FBN1 gene in the MFS families. The pregnant women of two families were guided for prenatal diagnosis in the second trimester of pregnancy.Results:The clinical laboratory diagnosis of MFS showed that two MFS patients had the pathogenic mutation of c.2560T>C heterozygous mutation and c.6772T>C heterozygous mutation in FBN1 gene, respectively. The mutation was not observed in 100 healthy people and normal members in two families. The prenatal diagnosis showed that there was a heterozygous mutation of FBN1 gene c.2560T>C in the first fetus of the MFS family, which was MFS. There was no mutation in the FBN1 gene in the second fetus of the MFS family, so it was recommended to continue the pregnancy. The results of postpartum follow-up were consistent with the results of clinical laboratory diagnosis.Conclusion:The clinical laboratory genetic diagnosis procedures for MFS have been established successfully, which provides an important reference for clarifying the clinical diagnosis of MFS.
