期刊论文详细信息
Molecular Syndromology
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain
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
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【 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   

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