Table 3 Single and multi-exon deletions detected by multiplex ligation-dependent probe amplification and confirmed by real-time PCR
Patient noDeleted exonsType of deletion
1753 and 4a*Multi-exon
1133 and 4a*Multi-exon
344a*Single exon
2013 and 4a*Multi-exon
6110a to 15Multi-exon
7210a*Single exon
11711*Single exon
1822 and 23.1Multi-exon
13126 and 27aMulti-exon
307IVS27b(OMG) to 30Multi-exon
22734*Single exon
1635*Single exon
19035 and 36Multi-exon
19636*Single exon

  • *These deletions were sequenced and none of the corresponding exons were found to carry a point mutation within the corresponding multiplex ligation-dependent probe amplification (MLPA) probe (supplementary fig 1; available at http://jmg.bmj.com/supplemental).