FLNA and chronic intestinal pseudoobstruction: In contrast to previously described mutations in the long isoform of FLNA, which alter the reading frame and lead to loss of Filamin A expression resulting in congenital short bowel syndrome or chronic intestinal pseudo-obstruction in pediatric patients, here we present the clinical and genetic features of an adult patient with chronic intestinal pseudo-obstruction in whom whole exome sequencing revealed a novel missense mutation (p.Gly19Val) in FLNA gene.