Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

Christine S. Van Der Werf, Yunia Sribudiani, Joke B.G.M. Verheij, Matthew Carroll, Edward O'Loughlin, Chien Huan Chen, Alice S. Brooks, M. Kathryn Liszewski, John P. Atkinson, Robert M.W. Hofstra

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Purpose:Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these patients.Methods:We performed mutation analysis of the second exon of FLNA in the two surviving affected males of the presumed X-linked family and in the isolated patient.Results:We identified a novel 2-base-pair deletion in the second exon of FLNA in all these male patients. The deletion is located between two nearby methionines at the N-terminus of filamin A. Previous studies showed that translation of FLNA occurs from both methionines, resulting in two isoforms of the protein. We hypothesized that the longer isoform is no longer translated due to the mutation and that this mutation is therefore not lethal for males in utero.Conclusion:Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA.

Original languageEnglish
Pages (from-to)310-313
Number of pages4
JournalGenetics in Medicine
Volume15
Issue number4
DOIs
StatePublished - Apr 2013

Keywords

  • FLNA
  • chronic idiopathic intestinal pseudo-obstruction
  • mutation
  • short small intestine
  • synovial lipomatosis

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