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Article

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

International journal of molecular sciences - 17 May 2024

Zodanu Gloria K E, Hwang John H, Mehta Zubin, Sisniega Carlos, Barsegian Alexander, Kang Xuedong, Biniwale Reshma, Si Ming-Sing, Satou Gary M, Halnon Nancy, Ucla Congenital Heart Defect BioCore Faculty, Grody Wayne W, Van Arsdell Glen S, Nelson Stanley F, Touma Marlin

Abstract excerpt

Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing...

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Identifiers

PMID: 38791509
DOI: 10.3390/ijms25105469
PMCID: PMC11122089

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