Dalla neonata alla madre: diagnosi di distrofia miotonica

La distrofia miotonica (DM) è una malattia genetica neuromuscolare degenerativa, autosomica dominante, caratterizzata da un quadro clinico variabile. Ne esistono 2 forme: tipo 1, o distrofia miotonica di Steinert e tipo 2 o PROMM (proximal myotonic myopaty). Il caso clinico descritto è un esempio di DMS congenita e mostra in modo evidente il fenomeno dell’anticipazione all’interno di una stessa famiglia

"Search for South European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences"

The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this mutation, while other previously described mutations account for less than 4%. To identify other common mutations in CF patients from the Mediterranean area, we have sequenced, exon by exon, 16 chromosomes that did not show the delta F508 deletion from a selected panel of eight unrelated CF patients. We describe here one missense and one nonsense mutation, and four sequence polymorphisms. We have also found two previously reported mutations in three chromosomes. Overall, these mutations may account for about 20% of CF alleles in the Italian and Spanish populations. No other mutations were detected in 10 out of 16 CF chromosomes after analyzing about 90% of the coding region of the CF gene, and 39 out of 54 intron/exon boundaries. Therefore, about 26% of CF mutations remain to be identified. In addition we provide the intron/exon boundary sequences for exons 4 to 9. These results together with previously reported linkage data suggest that in the Mediterranean populations further mutations may lie in the promoter region, or in intron sequences not yet analyzed