Deletions

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

NameCaseMutationResultSource
NW, LN125LNDc.10delCframe shift exon 1(Jinnah et al., 2006)
Family 4LNDc.22_24delGTC1 amino acid coded by exon 1 lost(Yamada et al., 2007)
NSLNDc.50delAframe shift in exon 2(Yamada et al., 2007)
NSLNDc.50delAframe shift in exon 2(Yamada et al., 2011a)
ColombiaLNDc.53delAframe shift in exon 2new
Family 5LNDc.82_84delTATp.Tyr28del(Yamada et al., 2007)
FE, 1423 [1]LNDc.82_84delTATp.Tyr28del(Jinnah et al., 2000; Tarle et al., 1991)
FMLNDc.82_84delTATp.Tyr28delnew
NSLNDc.88delGframe shift in exon 2(Nguyen et al., 2011)
LN170, RSLNDc.105_108delGTTTframe shift in exon 2new
LN211, CN LNDc.124_127delATTAframe shift in exon 2new
RJK 1939, LN7, BBLNDc.126delTframe shift in exon 2(Gibbs et al., 1990)
JC;ACLNDc.131delAframe shift in exon 2new
NSLNDc.134+1delGsplice error; exon 2 excluded(Willers et al., 1999)
NSLNDc.156delT1 bp deleted in exon 3(Willers et al., 1999)
69/01, Family 1LNDc.194_195delTC2 bp deleted in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
ZuLNDc.196_197delTG2 bp deleted in exon 3(Gathof et al., 1998)
FMLNDc.212delGframe shift in exon 3new
2 brothers [2] LND/HNDc.213delCframe shift in exon 3(Sharma et al., 2011)
108-03LNDc.213delCframe shift in exon 3(Corrigan et al., 2011)
LN28LNDc.248_249delAAframe shift in exon 3(Jinnah et al., 2000)
NALNDc.269_270delATframe shift in exon 3(Zamora et al., 2007)
LN165, EV LNDc.269_270delATframe shift in exon 3new
123-00LNDc.276delCframe shift in exon 3(Corrigan et al., 2011)
LN205, RC LNDc.288_289delTGframe shift in exon 3new
NSLNDc.289_290delGTframe shift in exon 3(Willers et al., 1999)
NSLNDc.289_290delGTframe shift in exon 3(Kim et al., 1997)
Family DLNDc.289_290delGTframe shift in exon 3(Kim et al., 1997)
CheltenhamLNDc.289_290delGTframe shift in exon 3(Boyd et al., 1993; Davidson et al., 1991)
RJK 1332, RCLNDc.289_290delGTframe shift in exon 3(Gibbs et al., 1989)
LN209, JB LNDc.289_290delGTframe shift in exon 3new
Family 56LNDc.292_298delGATTTTA7 bp deleted(O'Neill, 2004)
NSLNDc.307_308delAA2 bp deleted in exon 3(Willers et al., 1999)
RJK 1747, JMLNDc.317_318delGTframe shift in exon 3(Gibbs et al., 1990)
NSLNDc.317_318delGTframe shift in exon 3(Yamada et al., 2004)
NSLNDc.317_318delGTframe shift in exon 3(Yamada et al., 2011a)
Case 2 or 4LNDc.319_322del AATGsplice error; exon 4 excluded(Yamada et al., 1991; Yamada et al., 1992)
MurciaLNDc.333_334delAGframe shift in exon 4(Puig et al., 2001; Torres et al., 2000)
NSLNDc.333_334delAGframe shift in exon 4(Yamada et al., 2008)
126-09LNDc.337delGframe shift in exon 4(Corrigan et al., 2011)
36-07LNDc.337delGframe shift in exon 4(Corrigan et al., 2011)
LN164 LNDc.337delGframe shift in exon 4new
AsturiasLNDc.345delAframe shift in exon 4(Puig et al., 2001; Torres et al., 2000)
RJK2019LNDc.392delTframe shift in exon 5(Gibbs et al., 1990)
Family VILNDc.395_401del7 bp deleted(Jurecka et al., 2008; Popowska et al., 1998)
LN124, ES LNDc.402+1_402+4delGTAAsplice error, frame shift in exon 5new
LN218, DD LNDc.402+5delGsplice error, frame shift in exon 5new
Family 6LNDc.404delAframe shift(Yamada et al., 2007)
NSLNDc.436_437delTT2 bp deleted in exon 6(Willers et al., 1999)
Henryville, LN-DLNDc.485+1delGsplice error; 66 bp of I5 included, multiple mRNAs(Hunter et al., 1996)
CA;AALNDc.512delGframe shift in exon 7new
RJK 1894, PKLNDc.514_516delGTT1 amino acid coded by exon 7 lost(Gibbs et al., 1990)
ZHLNDc.521_522delAT2 bp deleted(Jinnah et al., 2000)
66-06LNDc.534delTframe shift in exon 8(Corrigan et al., 2011)
Michigan, DALNDc.535_537delGTTp.Val179del(Davidson et al., 1989b)
RJK 855LNDc.536_538delTTGp.Val179del(Gibbs and Caskey, 1987; Gibbs et al., 1989)
GLA 7291LNDc.549delTframe shift in exon 8(Boyd et al., 1993)
NS [3]LNDc.549delTframe shift in exon 8(Yamada et al., 2011a; Yamada et al., 2011b)
LN145, MP LNDc.577delCframe shift in exon 8new
LDLNDc.585_586delTAframe shift in exon 8new
NSLNDc.609+1_2delGTsplice error, exon 7 excluded(Yamada et al., 2004)
NSNA [4]c.609+1_609+4delGTAAsplice error(Roche et al., 2009)
LN146, KB LNDc.609+5_609+8del GTAAsplice error, frame shift in exon 8new
NSLNDc.611delAframe shift in exon 9(Jinnah et al., 2006)
Brierly HillNAc.619_620delGTframe shift in exon 9(Davidson et al., 1991)
60-10LNDc.622_624delTTAframe shift in exon 9(Corrigan et al., 2011)
Family ELNDc.631delAframe shift in exon 9(Kim et al., 1997)
NSLNDc.631delAframe shift in exon 9(Yamada et al., 2007)
Family 7LNDc.635delGframe shift iin exon 9(Yamada et al., 2007)
NSLNDdel~15kb from promotor to intron1no mRNA(Yamada et al., 2011a)
NSLNDdel~33kb from promotor to intron1no mRNA(Taniguchi et al., 2011; Yamada et al., 2011a)
MLLND5'UTR deletedno proteinnew
Illinois, RJK 951, RT, WELNVc.-12_1del13 bp deleted; alternate start(Davidson et al., 1994; Gibbs and Caskey, 1987; Gibbs et al., 1989)
8/01, 11/01, Family 2LNDexon 1 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Family XIIILNDexon 1 deletedN-terminal truncation(Jurecka et al., 2008; Popowska et al., 1998)
LN11E, AE, HE, LN117LNDexon 1 deleted1 exon deleted(Jinnah et al., 2000)
SSLNDexon 1 deleted1 exon deleted(Jinnah et al., 2000)
M97/1LNDexon 1 deleted1 exon deleted(Tvrdik et al., 1998)
NALNDexon 1 deleted1 exon deleted(Yamada et al., 2008)
Patient CLNDexon 1 deleted1 exon deleted(Mizunuma et al., 2001)
Patient DLNDexon 1 deleted1 exon deleted(Mizunuma et al., 2001)
LN130, ML LNDexon 1 deleted1 exon deletednew
LN139D, H2339, JM, JHG, LN160LNDexon 1 deleted1 exon deletednew
LN161, OLH LNDexon 1 deleted1 exon deletednew
LN201, JL LNDexon 1 deleted1 exon deletednew
LN215, WM LNDexon 1 deleted1 exon deletednew
LeganesLNDexon 1 deleted1 exon deletednew
12/00, Family 3LNDexons 1-3 deleted3 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
G 137NAexons 1-3 deleted3 exons deleted(Wehnert and Herrman, 1990)
LN12LNDexons 1-3 deleted3 exons deleted(Jinnah et al., 2000)
110/01, Family 4 LNDexons 1-9 deletedwhole gene deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Family 5LNDexons 1-9 deletedwhole gene deleted(de Gemmis et al., 2010)
RJK 853, McALNDexons 1-9 deletedwhole gene deleted(Gibbs et al., 1990; Yang et al., 1984)
RR, JRLNDexons 1-9 deletedwhole gene deleted(Jinnah et al., 2000)
NSLNDexons 1-9 deletedwhole gene deleted(Yamada et al., 2011a)
LN152, RR LNDexons 1-9 deletedwhole gene deletednew
MGLNDexon 2 deleted1 exon deleted(Jinnah et al., 2000)
NANAexon 2 deleted1 exon deleted(Pela et al., 2008)
C96/12HNDintrons 1-2 deletedpartial exon 2 deletion(Tvrdik et al., 1998)
ANLNDexons 2-3 deleted2 exons deleted(Jinnah et al., 2000)
G 316NAexons 2-3 deleted2 exons deleted(Wehnert and Herrman, 1990)
II-2LNDexons 2-3 deleted2 exons deleted(Renwick et al., 1995)
NSLNDexons 2-3 deleted2 exons deleted(Singh et al., 1989)
LN139E, H4672, HLNDexons 2-3 deleted2 exons deletednew
LN137, RC LNDexons 2-4 deleted3 exons deletednew
Adachi, NTLNDc.28_347del2 exons deleted(Fujimori et al., 1994),(Fujimori et al., 1991)
46/00, Family 7LNDexons 2-9 deleted8 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Ca, 6/00, Family 6LNDexons 2-9 deleted8 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1998)
RJK 2108, RKLNDc.156_195del40 bp deleted in exon 3(Gibbs et al., 1990)
BilbaoLNDc.274_289delTCCATTCCTATGACTG16 bp deleted in exon 3new
G 323LNDexon 3 deleted1 exon deleted(Wehnert and Herrman, 1990)
P-JGLNDexons 3-9 deleted7 exons deleted(Burgemeister et al., 1994)
AndorraLNDc.319_384delexon 4 deleted(Puig et al., 2001; Torres et al., 2000)
CCLNDc.322_389del67 bp deletion spanning exon 4-5(Jinnah et al., 2000)
1757,1758LNDexon 4 deleted1 exon deleted(Tarle et al., 1991)
RTLNDexon 4 deleted1 exon deleted(Sege-Peterson et al., 1992)
Bamber BridgeLNDexon 4 deleted1 exon deleted(Davidson et al., 1991)
24/1, Family 8LNDexon 4 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
CoLNDexon 4 deleted1 exon deleted(Gathof et al., 1998)
LN52, FILNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
LN40-1, PBLNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
RTLNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
DALNDexon 4 deleted1 exon deletednew
LN1-1, PBLNDexons 4-5 deleted2 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
NSNAexons 4-5 deletedexclusion exon 4-5(de Gemmis et al., 2010)
NSLNDexons 4-6 deleted3 exons deleted(Singh et al., 1989)
JS, RJK 849LNDexons 4-6 deleted6 exons deleted(Yang et al., 1984)
LN213, DR LNDexons 4-6 deleted3 exons deletednew
LN62-1, JOLNDexons 4-8 deleted5 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
GBLNDexons 4-8 deletedno proteinnew
MLLNDexons 4-9 deletedno proteinnew
LN10LNDexons 4-9 deleted6 exons deleted(Jinnah et al., 2000)
Family 72LNDexons 4-9 deleted6 exons deleted(O'Neill, 2004)
Family 9LNDexons 5-6 deleted2 exons deleted(Yamada et al., 2007; Yamada et al., 2011a)
RSLNDexon 5 deleted1 exon deleted(Jinnah et al., 2000)
NSLNDexon 5 deleted1 exon deleted(Yamada et al., 2011a; Yamada et al., 2011b)
LN-K, MD-HLNDexons 5-6 deleted2 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
MiGHRHc.403_452delframe shift(Sege-Peterson et al., 1992)
LNF, LILNDc.460_470del11 bp deleted in exon 6(Jinnah et al., 2000)
RJK 984LNDexons 6-9 deleted4 exons deleted(Fuscoe and Nelsen, 1994; Jankovic et al., 1988)
DLLNDexon 7 deleted1 exon deleted(Sege-Peterson et al., 1992)
CoulsdonLNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
DAG25HNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
DAG33LNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
VWLNDexon 7 deleted1 exon deletednew
GM 3467LNDexons 7-9 deleted3 exons deleted(Yang et al., 1984)
NSLNDexons 7-9 deleted3 exons deleted(Singh et al., 1989)
LN144, CS LNDexons 7-9 deleted3 exon deletednew
TS (WR170)LNDexon 8 deleted1 exon deleted(Fujimori et al., 1991)
PLLNDexon 8 deleted1 exon deletednew
HD, ConnersvilleLNDc.532_609delexon 8 deleted(Davidson et al., 1989b)
Case 5LNDc.609-16_657+58deldeletion of splice acceptor with cryptic splice acceptor(Yamada et al., 1992)
Evansville, RJK 894, BS, FELNDc.643_657+6del21 bp deleted in exon 9(Davidson et al., 1989b; Gibbs and Caskey, 1987; Gibbs et al., 1990)
LN127, GQ LNDc.643_657+7delexon 9 excludednew
Japan3HRHc.648_657+41del51 bp deleted in exon 9(Igarishi et al., 1989)
2037023,2037024, Family 9LNDexon 9 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Las PalmasLNDexon 9 deleted1 exon deletednew

Notes:
[1] Previously reported incorrectly as 80-82delATT (Tarle et al., 1991).
[2] The younger child has started self-multilation.
[3] Previously reported incorrectly as c.548delG (Yamada et al., 2011a).
[4] It was originally reported as LNV. Updated information in Jan 2013 indicated the patient was lost of follow up after first description, so the authors can not include it in LNV or LND.