Identification of gross deletions in FBN1 gene by MLPA.

ABSTRACT:

Background

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients carry a large genomic deletion in FBN1, which cannot be detected by routine sequencing. Here, we performed an MLPA (multiplex ligation-dependent probe amplification) test to detect large deletions and/or duplications in FBN1 and TGFBR2 in 115 unrelated Chinese patients with suspected MFS or early-onset aneurysm/dissection.

Results

Five novel large deletions encompassing a single exon or multiple exons in the FBN1 gene were characterized in five unrelated patien

SUBMITTER: Yang H 

PROVIDER: S-EPMC6172713 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature