Duplications

The following table provides an overview of currently known mutations leading to duplications.

NameCaseMutationSequence contextResultSource
ValenciaLNDc.50_51dupATCCA GGT TAT [AT]Gframe shift in exon 2new
Chicago, DMLNDc.57dupTGAC C[T]TT GATframe shift in exon 2(Davidson et al., 1989b)
(2 base run)
Coorparoo, JGLNDTGC AT[T]A CCTframe shift in exon 2(Gordon et al., 1991)
Family 14LNDc.89_96dupgctgaggatttg [aggatttg]gaaaframe shift(de Gemmis et al., 2010)
Zaragoza II, LN-HLNDc.102_103dupGGGAA AGG G[GG] TGframe shift in exon 2(Puig et al., 2001; Torres et al., 2000)
(6 base run)
24-00LNDc.116_124[3]replace 13nt of authentic sequence(Corrigan et al., 2011)
20/00, Family 11LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
(6 base run)
2037039, Family 12LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
(6 base run)
IJLNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Burgemeister et al., 1994)
(6 base run)
1650, CWLNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Tarle et al., 1991)
(6 base run)
RJK 866, CWLNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Gibbs et al., 1989)
(6 base run)
34MM/95LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Tvrdik et al., 1998)
(6 base run)
NS, Family A[1]LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Kim et al., 1997) (Yamada et al., 2011a)
(6 base run)
NS[2]LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3(Willers et al., 1999)
(6 base run)
LN133, AC LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
LN135 LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
LN149, NY LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
LN153, DC LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
LN173, CD LNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
BrusselsLNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
DDLNDc.212dupGAAG GGG GG[G]Cframe shift in exon 3new
(6 base run)
LN55, CMLNDc.219dupATAT AAA[A] TTCframe shift in exon 3(Jinnah et al., 2000)
CodicoteLNDc.297dupTGAT TTT[T] ATCframe shift in exon 3(Boyd et al., 1993; Davidson et al., 1991)
(4 base run)
BTLNDc.297dupTGAT TTT[T] ATCframe shift in exon 3new
(4 base run)
330insALNDc.331dupAagtca[A]acaggframe shift in exon 3(Yamada et al., 2007)
LN34, TSLNDc.373_374dupTTACT TT[TT]A ACTsplice error; exon 4-5 excluded(Jinnah et al., 2000; Jinnah et al., 2006)
(3 base run)
Cartagena, LN-HLNDc.406dupAGAT[A] ATA ATTframe shift in exon 6(Puig et al., 2001; Torres et al., 2000)
(creates ATA repeat)
ABLNDc.406dupAGAT[A] ATA ATTframe shift in exon 6(Jinnah et al., 2000)
(creates ATA repeat)
NSLNDc.435_438dupTTTGAGACTTTG[TTTG]CTTTCCframe shift in exon 6(Yamada et al., 2007)
1656, CWLNDc.437dupTACT TT[T]G CTTframe shift in exon 6(Tarle et al., 1991)
(3 base run)
56/00, Family 13LNDc.506dupCACC CC[C]A CGAframe shift in exon 7(Bertelli et al., 2004; de Gemmis et al., 2010)
(4 base run)
1266, PWLNDc.512_513dupGTCGA A[GT]GT GTTframe shift in exon 7(Tarle et al., 1991)
(run of 2 GT pairs)
65-99LNDc.532+2dupTagactttgttggframe shift in exon 7(Corrigan et al., 2011)
MWLNDc.572_579dup8 bp duplicationframe shift in exon 8(Jinnah et al., 2000)
NSLNDc.592_593dupTAGAA TA[TA]C TTCframe shift in exon 8(Willers et al., 1999)
(creates TA repeat)
LN26LNDexons 2-3 duplicated2 exons duplicatedexon 2-3 duplicated(Jinnah et al., 2000)
GM 6804HNDexons 2-3 duplicated13.7 Kb duplicated with rare reversionexon 2-3 duplicated(Monnat et al., 1992; Wilson et al., 1986)
GM 1622, DM, Case 32-26HNDexons 2-3 duplicated2 exons duplicated with rare reversionexon 2-3 duplicated(Jinnah et al., 2010; Sege-Peterson et al., 1992; Yang et al., 1984; Yang et al., 1988)
HJHNDexons 7-8 duplicated2 exons duplicatedexon 7-8 duplicated(Marcus et al., 1993b)
PJLNDexons 7-8 duplicated2 exons duplicatedexon 7-8 duplicated(Jinnah et al., 2000)

Notes:
[1] Original reported as 310insG (Kim et al., 1997).
[2] Original reported as 213insG (Willers et al., 1999).

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