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

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

Abstract Background Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1 gene, like Sanger sequencing, may mi...

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Bibliographic Details
Main Authors: Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Medical Genomics
Subjects:
NGS
FBN1
Large genomic deletions
Marfan syndrome
MLPA
Online Access:https://doi.org/10.1186/s12920-024-01822-w

Internet

https://doi.org/10.1186/s12920-024-01822-w

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