Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome

Abstract Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with wide clinical heterogeneity, and mainly caused by pathogenic variants in fibrillin-1 (FBN1). Methods A Chinese 4-generation MFS pedigree with 16 family members was recruited and exome sequencing (ES) wa...

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Bibliographic Details
Main Authors: Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2024-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Marfan syndrome
FBN1
Cis variants
Intronic indel variant
Germinal mosaicism
Online Access:https://doi.org/10.1186/s13023-024-03139-4

Internet

https://doi.org/10.1186/s13023-024-03139-4

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