Genome Sequencing Readily Detects a Copy Number Variant in FBN1 in a Patient with Marfan Syndrome

Francesca Jean; Amanda Stuart; Julien L. Marcadier; François P. Bernier; Ryan E. Lamont

doi:10.1016/j.cjco.2026.01.012

Genome Sequencing Readily Detects a Copy Number Variant in FBN1 in a Patient with Marfan Syndrome

CJC Open 2026 Open access

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Authors: Francesca Jean, Amanda Stuart, Julien L. Marcadier, François P. Bernier, Ryan E. Lamont

DOI: 10.1016/j.cjco.2026.01.012

Cited by: 0

References: 5

Abstract

Marfan syndrome is characterized by musculoskeletal, ocular, and cardiovascular findings and results from heterozygous disease-causing variants in FBN1 (fibrillin-1). Given that the majority of pathogenic variants in FBN1 are single-nucleotide variants (SNVs) or variants smaller than 50 base pairs, routine clinical genetic testing is optimized for these variant types. Here, we present an individual with a clinical diagnosis of Marfan syndrome, in whom routine commercial testing was nondiagnostic.

Fields of Study & Subjects

Connective tissue disorders research Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source: CJC Open
Volume: 8
Issue: 5
Pages: 557–560
Publication date: 2 February 2026
Language: EN

References 5