Figure 1

SETX gene mutations. (A) Schematic representation of the SETX genomic region between positions ~135,140,000 and ~135,230,000 on chromosome 9 (cen.: centromere; tel.: telomere). Exons are indicated by vertical bars, whose width is proportional to base pair extension. The identified mutations are reported above the region for deletions, and below for point mutations. Novel mutations are in bold. (B) Evolutionary conservation of the three novel amino acid changes identified, and flanking protein sequence: p.I133K, p.P496L, p.M2229T. Alignments were obtained from the UCSC genome browser (Conservation Track, http://genome.ucsc.edu/). (C) MLPA results in patients P641, P522, P1890, showed a homozygous exon 6 deletion, a heterozygous exon 8–10 deletion and an homozygous exon 16–23 deletion, respectively. In each graph, the abscissa indicates the exon probe, and the ordinates the normalized relative amount of each exon. In case of a homozygous deletion the value reached zero, whereas an heterozygous deletion was suggested by a value in the range 0.4-0.6.