Fibrillin-1 gene analysis of Korean patients with spontaneous CSF hypovolemia.
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.
Chung
Sun J
SJ
Department of Neurology, University of Ulsan Asan Medical Center, Seoul, South Korea.
Ki
Chang-Seok
CS
Lee
Myoung C
MC
Lee
Jae-Hong
JH
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines