Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome.

ABSTRACT: Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4( FBN1 ):c.229G > A(p.Gly77Arg), NM_000138.4( FBN1 ):c.165-2A > G (nov

SUBMITTER: Yalcintepe S 

PROVIDER: S-EPMC7490121 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature