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Article

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

Journal of medical genetics - 1 Feb 2017

Arnaud Pauline, Hanna Nadine, Aubart Mélodie, Leheup Bruno, Dupuis-Girod Sophie, Naudion Sophie, Lacombe Didier, Milleron Olivier, Odent Sylvie, Faivre Laurence, Bal Laurence, Edouard Thomas, Collod-Beroud Gwenaëlle, Langeois Maud, Spentchian Myrtille, Gouya Laurent, Jondeau Guillaume, Boileau Catherine

Abstract excerpt

BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound heterozygous cases are rare events and have been associated with a clinical severe presentation. OBJECTIVES: Report unexpected findings of homozygosity and compound heterozygosity in the course of molecular diagnosis...

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Source

Identifiers

PMID: 27582083
DOI: 10.1136/jmedgenet-2016-103996

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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