title: Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA.
authors.affiliation: Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Christine S
authors.initials: CS
authors.lastname: van der Werf
authors.forename: Yunia
authors.initials: Y
authors.lastname: Sribudiani
authors.forename: Joke B G M
authors.initials: JB
authors.lastname: Verheij
authors.forename: Matthew
authors.initials: M
authors.lastname: Carroll
authors.forename: Edward
authors.initials: E
authors.lastname: O'Loughlin
authors.forename: Chien-Huan
authors.initials: CH
authors.lastname: Chen
authors.forename: Alice S
authors.initials: AS
authors.lastname: Brooks
authors.forename: M Kathryn
authors.initials: MK
authors.lastname: Liszewski
authors.forename: John P
authors.initials: JP
authors.lastname: Atkinson
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005091:Exons; D064448:Filamins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D012778:Short Bowel Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D064448:Filamins