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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.    Electronic supplementary material  The online version of this article (10.1186/s40246-018-0178-y) contains supplementary material, which is available to authorized users.

Identification of gross deletions in FBN1 gene by MLPA