title: Fibrillin-1 gene analysis of Korean patients with spontaneous CSF hypovolemia.
abstract: BACKGROUND
  Mutations in different domains of the Fibrillin-1 (FBN1) gene may be responsible for the variable phenotypic expression of Marfan's syndrome that may present with CSF hypovolemia.
  
  
  OBJECTIVE
  To evaluate the association between mutations in the Fibrillin-1 (FBN1) gene and spontaneous CSF hypovolemia (SCH) in a Korean population.
  
  
  METHODS
  We studied 10 consecutive patients with SCH without clinical characteristics of Marfan's syndrome. The genetic analysis was performed.
  
  
  RESULTS
  Direct sequencing analysis of the FBN1 gene identified 15 genetic variations, of which 5 coding (3 synonymous, 2 nonsynonymous) and 8 intronic variations were listed in the single nucleotide polymorphism database (dbSNP). The other 2 variations, c.2728 - 12T > C in intron 21 and c.4582 - 19A > G in intron 35, were also observed in normal controls with estimated frequencies of 0.06 and 0.15, respectively.
  
  
  CONCLUSIONS
  We could not identify any FBN1 variations possibly associated with SCH in our study population.
authors.affiliation: Department of Neurology, University of Ulsan Asan Medical Center, Seoul, South Korea.
authors.forename: Sun J
authors.initials: SJ
authors.lastname: Chung
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Myoung C
authors.initials: MC
authors.lastname: Lee
authors.forename: Jae-Hong
authors.initials: JH
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002555:Cerebrospinal Fluid / Q000502:physiology*; D015170:Cerebrospinal Fluid Pressure / Q000235:genetics / Q000502:physiology; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D019585:Intracranial Hypotension / Q000235:genetics* / Q000503:physiopathology; D007723:Korea; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines