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

Molecular Syndromology

Chloé Arfeuille¹  Catherine Boileau¹  Quentin Hauet¹  Olivier Baron¹  Bénédicte Romefort¹  Pauline Arnaud¹  Nadir Benbrik¹  Albert David¹  Bertrand Isidor¹  Nadine Hanna¹  Laurianne Le Gloan¹  Nicolas Joram¹  Véronique Gournay¹ 

[1] aCardiologie Pédiatrique et Congénitale, CHU de Nantes, Université de Nantes, Nantes, France

关键词: FBN1;    Fibrillin;    Marfan syndrome;    Neonatal Marfan syndrome;   

DOI  :  10.1159/000443867

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown