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.
Objectives.—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.