Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain | Zendy

Laurianne Le Gloan | Zendy; Quentin Hauet | Zendy; Albert David | Zendy; Nadine Hanna | Zendy; Chloé Arfeuille | Zendy; Pauline Arnaud | Zendy; Cathérine Boileau | Zendy; Bénédicte Romefort | Zendy; Nadir Benbrik | Zendy; V. Gournay | Zendy; Nicolas Joram | Zendy; Olivier Baron | Zendy; Bertrand Isidor | Zendy

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Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Author(s) -

Laurianne Le Gloan,

Quentin Hauet,

Albert David,

Nadine Hanna,

Chloé Arfeuille,

Pauline Arnaud,

Cathérine Boileau,

Bénédicte Romefort,

Nadir Benbrik,

V. Gournay,

Nicolas Joram,

Olivier Baron,

Bertrand Isidor

Publication year - 2015

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000443867

Subject(s) - marfan syndrome , exon , phenotype , mutation , medicine , genetics , rna splicing , genetic testing , frameshift mutation , biology , pediatrics , bioinformatics , gene , rna

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.

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