Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Multicopy dinucleotide repeats have been characterized in the spinal muscular atrophy (SMA) region on chromosome 5q13, which reveal deletions in some SMA patients, 119 Italian and Spanish SMA families have been analysed using the C272 and C212 markers. Seventy percent of these families were informative. We found 9.4% de novo deletions in SMA I and 1.5% in SMA II families. A single inherited deletion segregating in a Spanish pedigree was detected in three affected brothers. A SMA II patient showed deletion only of C272. The data presented in this study are relevant to the molecular diagnosis of SMA families in Italy and Spain and provide additional insights toward the understanding of the molecular pathology of SMA.