title: Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.
abstract: We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Laurianne
authors.initials: L
authors.lastname: Le Gloan
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Quentin
authors.initials: Q
authors.lastname: Hauet
authors.affiliation: Génétique Médicale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.affiliation: Département de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
authors.forename: Nadine
authors.initials: N
authors.lastname: Hanna
authors.affiliation: Département de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
authors.forename: Chloé
authors.initials: C
authors.lastname: Arfeuille
authors.affiliation: Département de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
authors.forename: Pauline
authors.initials: P
authors.lastname: Arnaud
authors.affiliation: Département de Génétique Moléculaire, Centre National de Référence pour le Syndrome de Marfan et Apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP-HP Hopital Bichat, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Romefort
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Nadir
authors.initials: N
authors.lastname: Benbrik
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Gournay
authors.affiliation: Réanimation Pédiatrique, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Joram
authors.affiliation: Cardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Baron
authors.affiliation: Génétique Médicale, CHU de Nantes, Université de Nantes, Nantes, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
keywords: FBN1; Fibrillin; Marfan syndrome; Neonatal Marfan syndrome