Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Abstract excerpt

Filamin A is an X-linked, ubiquitous actin-binding protein whose mutations are associated to multiple disorders with limited genotype-phenotype correlations. While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy...

Topics

• Child
• Child, Preschool
• Ehlers-Danlos Syndrome
• Exome
• Fatal Outcome
• Female
• Filamins
• Genes, X-Linked
• Genetic Association Studies
• High-Throughput Nucleotide Sequencing
• Humans
• Magnetic Resonance Imaging
• Male