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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Hlavní autoři:	Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu, Xiangdong Kong
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-05-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Marfan syndrome FBN1 Cis variants Intronic indel variant Germinal mosaicism
On-line přístup:	https://doi.org/10.1186/s13023-024-03139-4
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