Single nucleotide polymorphisms of the fukutin gene

Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial pa rtial lipodystrophy (FPLD). This indicates that one gene can cause differen t phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy (BSCL) has been mapp ed to chromosome 9q34. Based on the observation that one gene caused both F PLD and EMD2, we considered that a known gene for muscular dystrophy at or near the BSCL locus on chromosome 9q would be an appropriate candidate for BSCL. The gene encoding fukutin, which is mutated in Fukuyama congenital mu scular dystrophy has been mapped to 9q31. We thus developed amplification p rimers for the coding regions of the fukutin gene. We found no putative dis ease mutations, but through screening of diseased and normal subjects, we i dentified three novel single nucleotide polymorphisms (SNPs). We conclude t hat mutations in fukutin are not present in subjects with BSCL. However, th e identification of SNPs provides tools to investigate this protein for ass ociation with other phenotypes.