Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

• DOI: 10.1186/s12920-024-01822-w
• Publication Date: 2024-02-05T09:02:19Z
• Authors: Xinxin Lu; Ren Wang; Mingjie Li; Biao Zhang; Huiying Rao; Xiaoli Huang; Xijun Chen; Yan’an Wu
• Keywords: Sanger sequencing; Nonsense mutation; Human genetics

Abstract Background Mutations in fibrillin-1 ( FBN1 ) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most mutations missense or nonsense mutations. Traditional molecular genetic testing for the gene, like Sanger sequencing, may miss disease-causing gene’s regulatory regions non-coding sequences, as well partial complete gene deletions and duplications. Methods Next-generation multiplex ligation-dependent probe amplification gap PCR were conducted on two MFS patients screen Results We identified large from patients. One patient had a 0.23 Mb deletion (NC_000015.9:g.48550506_48779360del) including 5’UTR-exon6 of . The other harbored 1416 bp (NC_000015.9:g.48410869_48412284del) affecting last exon, exon 66, gene. Conclusion Our results expanded number highlighted importance screening clinical testing, especially those classic phenotype.