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

Mol Syndromol 2016 Feb 2;6(6):281-6. Epub 2016 Feb 2.

Génétique Médicale, CHU de Nantes, Université de Nantes, Nantes, France.

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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http://dx.doi.org/10.1159/000443867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802997PMC
February 2016
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