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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.