Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene.
10.3760/cma.j.cn511374-20210630-00554
- VernacularTitle:FBN1基因新变异所致马凡综合征患儿1例的分析
- Author:
Liling ZHAO
1
;
Shengping LIU
;
Wenmu HU
;
Ping JIN
Author Information
1. Department of Endocrinology, the Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, China. ping.jin06@csu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Male;
Humans;
Marfan Syndrome/genetics*;
Fibrillin-1/genetics*;
Mutation;
Genotype;
Genetic Association Studies
- From:
Chinese Journal of Medical Genetics
2023;40(1):62-65
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.
METHODS:Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software.
RESULTS:The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously.
CONCLUSION:The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.
