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 patients, of which four were proven by Sanger sequencing, and the breakpoints were identified. Three of them met the revised Ghent criteria when genetic results were not available, and the other two patients were highly suspected and diagnosed with MFS until the FBN1 deletions were identified. CONCLUSIONS:Our finding expands the mutation spectrum of large FBN1 deletions and emphasizes the importance of screening for large FBN1 deletions in clinical genetic testing, especially for those with classic Marfan phenotype.

journal_name

Hum Genomics

journal_title

Human genomics

authors

Yang H,Ma Y,Luo M,Zhao K,Zhang Y,Zhu G,Sun X,Luo F,Wang L,Shu C,Zhou Z

doi

10.1186/s40246-018-0178-y

subject

Has Abstract

pub_date

2018-10-04 00:00:00

pages

46

issue

1

eissn

1473-9542

issn

1479-7364

pii

10.1186/s40246-018-0178-y

journal_volume

12

pub_type

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