A de novo mutation leading to Marfan syndrome in a case.
10.3760/cma.j.cn511374-20200323-00191
- Author:
Shuimei LIANG
1
;
Lili LIU
;
Xiangdong QIU
;
Jinxiu LIU
Author Information
1. Jinan Yinfeng Medical Laboratory, Jinan, Shandong 250014, China. liujinxiu1987@163. com.
- Publication Type:Journal Article
- MeSH:
Child;
Exons;
Fibrillin-1/genetics*;
Heart Defects, Congenital;
Humans;
Marfan Syndrome/genetics*;
Mutation;
Sequence Deletion;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(2):162-165
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.
METHODS:Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.
RESULTS:The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.
CONCLUSION:Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.
