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Table 3 Position of breakpoints, and their comparison with a previous study

From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

Rearrangement

Breakpoint determined in the current study a

Breakpoint according to a previous study [23]b

Difference between the breakpoints determined in each study (bps) c

Duplication/ deletion size (bps) d

promoter_exon2del

c.-1823_190+566del

 = 

 

13,186

exon2_6dup

c.67+3545_940+917dup

c. 67+3968_940+296dup

1,044

15,272

exon3_12del

c.191-481_1846-1096del

c.190+984_1846-1160del

790

16,814

exon4_8dup

c.314-443_1187-385dup

c.314-446_1187-386dup

2

8,117

exon5_10del

c.695-67_1586+371del

 = 

 

7,636

exon9_14del

c.1186+700_2141-545del

 = 

 

10,291

exon9_15del

c.1187-169_2312-790del

 = 

 

14,110

exon16_18dup

c.2312-2067_*1216dup

c.2311+1941_*1216dup

656

6,592

  1. Breakpoints of these rearrangements in the Czech population have already been determined in 2010 by Goldmann et al. [23], presumably using the same patients. Surprisingly, the position of some of these breakpoints was determined to be different in the current study (see Additional file 3 for more details)
  2. aDescription of variants is based on the reference sequence NG_009060.1(NM_000527.4)
  3. b" = " denotes that the breakpoint was the same in both studies
  4. cThe difference was computed as the difference between the size of the deletion/duplication as determined in each study
  5. dsize of the rearrangement (either duplication or deletion) based on the breakpoints determined in the current study
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Lipids in Health and Disease

ISSN: 1476-511X