Alterations of Sarcospan Gene in Congenital Fibrosis Syndrome

Lee, Se Youp; Suh, Seong Il

Abstract

Congenital fibrosis of the extraocular muscles syndrome [CFEOMS] was genetically related to the region of chromosome 12[p11.2~q12] by linkage analysis. Recently the gene encoding sarcospan, one of transmembrane components of the dystrophinglycoprotein complex which falls within the genetic locus p11.2 of chromosome 12, was suggested to be related with CFEOMS. In this study, we analysed the genetic status[deletion and/or mutation] and the expression of sarcospan gene in 8 CFEOMS patients by using PCR[polymerase chain reaction], RT[reverse transcription]-PCR and PCR-SSCP[single strand conformational polymorphism] analysis. In PCR and PCRSSCP analysis, we could not detect any deletion or mutation in exon 3 of sarcospan, and in RT-PCR, 3 out of 4 CFEOMS samples were found to be slightly the increased expression of sarcospan gene compared to that of normal control. In conclusion, the genetical relationship between sarcospan gene and CFEOMS could not be related with deletional and mutational events of sarcospan gene. Even though, sacospan gene showed slightly the increased expressional patterns in CFEOMS samples, the relationship was difficult to explain because the cases were too small. Taken together, in order to confirm the relationship between sarcospan gene and CFEOMS, analysis of DNA and RNA from extraocular muscle were further needed.