TABLE 2

Nature, position, and consequence of mutations

PatientsNucleotide alteration (AF110146)Predicted amino acid change
WRS1-1,2560G/AW163STOP
WRS2-1,2,31103insTfs345/STOP345
WRS3-1*1. 1059insTfs329/STOP345
2. Intron 3, del(aggtg) −7 to −3 from exon 4Possible effect on splicing
WRS4-11634G/AW521STOP
WRS5-12658-2662del(AAGTT)fs862/STOP864
WRS6-12791-2794del(GAGA)fs909/STOP931
WRS7-1,2del(184 bp) in exon 15/intron 15fs1024/STOP1047
WRS8-1,21832G/AR587Q
WRS9-1,22006-7TT/CCL645P
WRS10-12037T/AN655K
WRS11-12766G/TW898C
WRS11-13242T/CL1057P
  • *

    * Patient homozygote for two mutations;

  • patient compound heterozygote for two mutations. fs, frameshift mutation, starting at the position shown.