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Table 2 Genomic characteristics of deletion and duplication breakpoints in the LDLR gene in Czech FH patients

From: Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

Mutation at cDNA level

Mutation at DNA level

Deletion/duplication size

Recombination mechanism

Repetitive element 5'/class/family

Repetitive element 3'/class/family

No. of probands

promoter_2exondel

c. -1823_190+566del

13186bp

NAHR

AluY/SINE/Alu

AluY/SINE/Alu

1

exon2_6dup

c. 67+3968_940+296dup

14228bp

NAHR

AluSx1/SINE/Alu

AluSx3/SINE/Alu

9

exon3_12del

c.190+984_1846-1160del

17604bp

NAHR

FLAM_A/SINE/Alu

AluY/SINE/Alu

1

exon4_8dup

c.314-446_1187-386dup

8119bp

NHEJ

AluSx1/SINE/Alu

MER83/LTR/ERV1

1

exon5_10del

c. 695-67_1586+371del

7636bp

NHEJ

AluJo/SINE/Alu

AluSx1/SINE/Alu

4

exon9_14del

c.1186+700_2141-545del

10291bp

NAHR

AluYa5/SINE/Alu

AluY/SINE/Alu

10

exon9_15del)

c.1187-169_2312-790del

14110bp

NAHR

AluJb/SINE/Alu

AluSx1/SINE/Alu

8

exon16_18dup)

c.2311+1941_*1216dup

7248bp

NAHR

AluYb8/SINE/Alu

AluSq2/SINE/Alu

3

  1. Newly described rearrangements are in bold letters; NAHR: nonallelic homologous recombination; NHEJ: nonhomologous end joining.