The following table provides an overview of currently known mutations leading to deletions.
Name | Case | Mutation | Result | Source |
NW, LN125 | LND | c.10delC | frame shift exon 1 | (Jinnah et al., 2006) |
Family 4 | LND | c.22_24delGTC | 1 amino acid coded by exon 1 lost | (Yamada et al., 2007) |
NS | LND | c.50delA | frame shift in exon 2 | (Yamada et al., 2007) |
NS | LND | c.50delA | frame shift in exon 2 | (Yamada et al., 2011a) |
Colombia | LND | c.53delA | frame shift in exon 2 | new |
Family 5 | LND | c.82_84delTAT | p.Tyr28del | (Yamada et al., 2007) |
FE, 1423 [1] | LND | c.82_84delTAT | p.Tyr28del | (Jinnah et al., 2000; Tarle et al., 1991) |
FM | LND | c.82_84delTAT | p.Tyr28del | new |
NS | LND | c.88delG | frame shift in exon 2 | (Nguyen et al., 2011) |
LN170, RS | LND | c.105_108delGTTT | frame shift in exon 2 | new |
LN211, CN | LND | c.124_127delATTA | frame shift in exon 2 | new |
RJK 1939, LN7, BB | LND | c.126delT | frame shift in exon 2 | (Gibbs et al., 1990) |
JC;AC | LND | c.131delA | frame shift in exon 2 | new |
NS | LND | c.134+1delG | splice error; exon 2 excluded | (Willers et al., 1999) |
NS | LND | c.156delT | 1 bp deleted in exon 3 | (Willers et al., 1999) |
69/01, Family 1 | LND | c.194_195delTC | 2 bp deleted in exon 3 | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Zu | LND | c.196_197delTG | 2 bp deleted in exon 3 | (Gathof et al., 1998) |
FM | LND | c.212delG | frame shift in exon 3 | new |
2 brothers [2] | LND/HND | c.213delC | frame shift in exon 3 | (Sharma et al., 2011) |
108-03 | LND | c.213delC | frame shift in exon 3 | (Corrigan et al., 2011) |
LN28 | LND | c.248_249delAA | frame shift in exon 3 | (Jinnah et al., 2000) |
NA | LND | c.269_270delAT | frame shift in exon 3 | (Zamora et al., 2007) |
LN165, EV | LND | c.269_270delAT | frame shift in exon 3 | new |
123-00 | LND | c.276delC | frame shift in exon 3 | (Corrigan et al., 2011) |
LN205, RC | LND | c.288_289delTG | frame shift in exon 3 | new |
NS | LND | c.289_290delGT | frame shift in exon 3 | (Willers et al., 1999) |
NS | LND | c.289_290delGT | frame shift in exon 3 | (Kim et al., 1997) |
Family D | LND | c.289_290delGT | frame shift in exon 3 | (Kim et al., 1997) |
Cheltenham | LND | c.289_290delGT | frame shift in exon 3 | (Boyd et al., 1993; Davidson et al., 1991) |
RJK 1332, RC | LND | c.289_290delGT | frame shift in exon 3 | (Gibbs et al., 1989) |
LN209, JB | LND | c.289_290delGT | frame shift in exon 3 | new |
Family 56 | LND | c.292_298delGATTTTA | 7 bp deleted | (O'Neill, 2004) |
NS | LND | c.307_308delAA | 2 bp deleted in exon 3 | (Willers et al., 1999) |
RJK 1747, JM | LND | c.317_318delGT | frame shift in exon 3 | (Gibbs et al., 1990) |
NS | LND | c.317_318delGT | frame shift in exon 3 | (Yamada et al., 2004) |
NS | LND | c.317_318delGT | frame shift in exon 3 | (Yamada et al., 2011a) |
Case 2 or 4 | LND | c.319_322del AATG | splice error; exon 4 excluded | (Yamada et al., 1991; Yamada et al., 1992) |
Murcia | LND | c.333_334delAG | frame shift in exon 4 | (Puig et al., 2001; Torres et al., 2000) |
NS | LND | c.333_334delAG | frame shift in exon 4 | (Yamada et al., 2008) |
126-09 | LND | c.337delG | frame shift in exon 4 | (Corrigan et al., 2011) |
36-07 | LND | c.337delG | frame shift in exon 4 | (Corrigan et al., 2011) |
LN164 | LND | c.337delG | frame shift in exon 4 | new |
Asturias | LND | c.345delA | frame shift in exon 4 | (Puig et al., 2001; Torres et al., 2000) |
RJK2019 | LND | c.392delT | frame shift in exon 5 | (Gibbs et al., 1990) |
Family VI | LND | c.395_401del | 7 bp deleted | (Jurecka et al., 2008; Popowska et al., 1998) |
LN124, ES | LND | c.402+1_402+4delGTAA | splice error, frame shift in exon 5 | new |
LN218, DD | LND | c.402+5delG | splice error, frame shift in exon 5 | new |
Family 6 | LND | c.404delA | frame shift | (Yamada et al., 2007) |
NS | LND | c.436_437delTT | 2 bp deleted in exon 6 | (Willers et al., 1999) |
Henryville, LN-D | LND | c.485+1delG | splice error; 66 bp of I5 included, multiple mRNAs | (Hunter et al., 1996) |
CA;AA | LND | c.512delG | frame shift in exon 7 | new |
RJK 1894, PK | LND | c.514_516delGTT | 1 amino acid coded by exon 7 lost | (Gibbs et al., 1990) |
ZH | LND | c.521_522delAT | 2 bp deleted | (Jinnah et al., 2000) |
66-06 | LND | c.534delT | frame shift in exon 8 | (Corrigan et al., 2011) |
Michigan, DA | LND | c.535_537delGTT | p.Val179del | (Davidson et al., 1989b) |
RJK 855 | LND | c.536_538delTTG | p.Val179del | (Gibbs and Caskey, 1987; Gibbs et al., 1989) |
GLA 7291 | LND | c.549delT | frame shift in exon 8 | (Boyd et al., 1993) |
NS [3] | LND | c.549delT | frame shift in exon 8 | (Yamada et al., 2011a; Yamada et al., 2011b) |
LN145, MP | LND | c.577delC | frame shift in exon 8 | new |
LD | LND | c.585_586delTA | frame shift in exon 8 | new |
NS | LND | c.609+1_2delGT | splice error, exon 7 excluded | (Yamada et al., 2004) |
NS | NA [4] | c.609+1_609+4delGTAA | splice error | (Roche et al., 2009) |
LN146, KB | LND | c.609+5_609+8del GTAA | splice error, frame shift in exon 8 | new |
NS | LND | c.611delA | frame shift in exon 9 | (Jinnah et al., 2006) |
Brierly Hill | NA | c.619_620delGT | frame shift in exon 9 | (Davidson et al., 1991) |
60-10 | LND | c.622_624delTTA | frame shift in exon 9 | (Corrigan et al., 2011) |
Family E | LND | c.631delA | frame shift in exon 9 | (Kim et al., 1997) |
NS | LND | c.631delA | frame shift in exon 9 | (Yamada et al., 2007) |
Family 7 | LND | c.635delG | frame shift iin exon 9 | (Yamada et al., 2007) |
NS | LND | del~15kb from promotor to intron1 | no mRNA | (Yamada et al., 2011a) |
NS | LND | del~33kb from promotor to intron1 | no mRNA | (Taniguchi et al., 2011; Yamada et al., 2011a) |
ML | LND | 5'UTR deleted | no protein | new |
Illinois, RJK 951, RT, WE | LNV | c.-12_1del | 13 bp deleted; alternate start | (Davidson et al., 1994; Gibbs and Caskey, 1987; Gibbs et al., 1989) |
8/01, 11/01, Family 2 | LND | exon 1 deleted | 1 exon deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Family XIII | LND | exon 1 deleted | N-terminal truncation | (Jurecka et al., 2008; Popowska et al., 1998) |
LN11E, AE, HE, LN117 | LND | exon 1 deleted | 1 exon deleted | (Jinnah et al., 2000) |
SS | LND | exon 1 deleted | 1 exon deleted | (Jinnah et al., 2000) |
M97/1 | LND | exon 1 deleted | 1 exon deleted | (Tvrdik et al., 1998) |
NA | LND | exon 1 deleted | 1 exon deleted | (Yamada et al., 2008) |
Patient C | LND | exon 1 deleted | 1 exon deleted | (Mizunuma et al., 2001) |
Patient D | LND | exon 1 deleted | 1 exon deleted | (Mizunuma et al., 2001) |
LN130, ML | LND | exon 1 deleted | 1 exon deleted | new |
LN139D, H2339, JM, JHG, LN160 | LND | exon 1 deleted | 1 exon deleted | new |
LN161, OLH | LND | exon 1 deleted | 1 exon deleted | new |
LN201, JL | LND | exon 1 deleted | 1 exon deleted | new |
LN215, WM | LND | exon 1 deleted | 1 exon deleted | new |
Leganes | LND | exon 1 deleted | 1 exon deleted | new |
12/00, Family 3 | LND | exons 1-3 deleted | 3 exons deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
G 137 | NA | exons 1-3 deleted | 3 exons deleted | (Wehnert and Herrman, 1990) |
LN12 | LND | exons 1-3 deleted | 3 exons deleted | (Jinnah et al., 2000) |
110/01, Family 4 | LND | exons 1-9 deleted | whole gene deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Family 5 | LND | exons 1-9 deleted | whole gene deleted | (de Gemmis et al., 2010) |
RJK 853, McA | LND | exons 1-9 deleted | whole gene deleted | (Gibbs et al., 1990; Yang et al., 1984) |
RR, JR | LND | exons 1-9 deleted | whole gene deleted | (Jinnah et al., 2000) |
NS | LND | exons 1-9 deleted | whole gene deleted | (Yamada et al., 2011a) |
LN152, RR | LND | exons 1-9 deleted | whole gene deleted | new |
MG | LND | exon 2 deleted | 1 exon deleted | (Jinnah et al., 2000) |
NA | NA | exon 2 deleted | 1 exon deleted | (Pela et al., 2008) |
C96/12 | HND | introns 1-2 deleted | partial exon 2 deletion | (Tvrdik et al., 1998) |
AN | LND | exons 2-3 deleted | 2 exons deleted | (Jinnah et al., 2000) |
G 316 | NA | exons 2-3 deleted | 2 exons deleted | (Wehnert and Herrman, 1990) |
II-2 | LND | exons 2-3 deleted | 2 exons deleted | (Renwick et al., 1995) |
NS | LND | exons 2-3 deleted | 2 exons deleted | (Singh et al., 1989) |
LN139E, H4672, H | LND | exons 2-3 deleted | 2 exons deleted | new |
LN137, RC | LND | exons 2-4 deleted | 3 exons deleted | new |
Adachi, NT | LND | c.28_347del | 2 exons deleted | (Fujimori et al., 1994),(Fujimori et al., 1991) |
46/00, Family 7 | LND | exons 2-9 deleted | 8 exons deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Ca, 6/00, Family 6 | LND | exons 2-9 deleted | 8 exons deleted | (Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1998) |
RJK 2108, RK | LND | c.156_195del | 40 bp deleted in exon 3 | (Gibbs et al., 1990) |
Bilbao | LND | c.274_289delTCCATTCCTATGACTG | 16 bp deleted in exon 3 | new |
G 323 | LND | exon 3 deleted | 1 exon deleted | (Wehnert and Herrman, 1990) |
P-JG | LND | exons 3-9 deleted | 7 exons deleted | (Burgemeister et al., 1994) |
Andorra | LND | c.319_384del | exon 4 deleted | (Puig et al., 2001; Torres et al., 2000) |
CC | LND | c.322_389del | 67 bp deletion spanning exon 4-5 | (Jinnah et al., 2000) |
17,571,758 | LND | exon 4 deleted | 1 exon deleted | (Tarle et al., 1991) |
RT | LND | exon 4 deleted | 1 exon deleted | (Sege-Peterson et al., 1992) |
Bamber Bridge | LND | exon 4 deleted | 1 exon deleted | (Davidson et al., 1991) |
24/1, Family 8 | LND | exon 4 deleted | 1 exon deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Co | LND | exon 4 deleted | 1 exon deleted | (Gathof et al., 1998) |
LN52, FI | LND | exon 4 deleted | 1 exon deleted | (Jinnah et al., 2000) |
LN40-1, PB | LND | exon 4 deleted | 1 exon deleted | (Jinnah et al., 2000) |
RT | LND | exon 4 deleted | 1 exon deleted | (Jinnah et al., 2000) |
DA | LND | exon 4 deleted | 1 exon deleted | new |
LN1-1, PB | LND | exons 4-5 deleted | 2 exons deleted | (Brooks et al., 2001; Jinnah et al., 2000) |
NS | NA | exons 4-5 deleted | exclusion exon 4-5 | (de Gemmis et al., 2010) |
NS | LND | exons 4-6 deleted | 3 exons deleted | (Singh et al., 1989) |
JS, RJK 849 | LND | exons 4-6 deleted | 6 exons deleted | (Yang et al., 1984) |
LN213, DR | LND | exons 4-6 deleted | 3 exons deleted | new |
LN62-1, JO | LND | exons 4-8 deleted | 5 exons deleted | (Brooks et al., 2001; Jinnah et al., 2000) |
GB | LND | exons 4-8 deleted | no protein | new |
ML | LND | exons 4-9 deleted | no protein | new |
LN10 | LND | exons 4-9 deleted | 6 exons deleted | (Jinnah et al., 2000) |
Family 72 | LND | exons 4-9 deleted | 6 exons deleted | (O'Neill, 2004) |
Family 9 | LND | exons 5-6 deleted | 2 exons deleted | (Yamada et al., 2007; Yamada et al., 2011a) |
RS | LND | exon 5 deleted | 1 exon deleted | (Jinnah et al., 2000) |
NS | LND | exon 5 deleted | 1 exon deleted | (Yamada et al., 2011a; Yamada et al., 2011b) |
LN-K, MD-H | LND | exons 5-6 deleted | 2 exons deleted | (Brooks et al., 2001; Jinnah et al., 2000) |
MiG | HRH | c.403_452del | frame shift | (Sege-Peterson et al., 1992) |
LNF, LI | LND | c.460_470del | 11 bp deleted in exon 6 | (Jinnah et al., 2000) |
RJK 984 | LND | exons 6-9 deleted | 4 exons deleted | (Fuscoe and Nelsen, 1994; Jankovic et al., 1988) |
DL | LND | exon 7 deleted | 1 exon deleted | (Sege-Peterson et al., 1992) |
Coulsdon | LND | exon 7 deleted | 1 exon deleted | (Davidson et al., 1991) |
DAG25 | HND | exon 7 deleted | 1 exon deleted | (Davidson et al., 1991) |
DAG33 | LND | exon 7 deleted | 1 exon deleted | (Davidson et al., 1991) |
VW | LND | exon 7 deleted | 1 exon deleted | new |
GM 3467 | LND | exons 7-9 deleted | 3 exons deleted | (Yang et al., 1984) |
NS | LND | exons 7-9 deleted | 3 exons deleted | (Singh et al., 1989) |
LN144, CS | LND | exons 7-9 deleted | 3 exon deleted | new |
TS (WR170) | LND | exon 8 deleted | 1 exon deleted | (Fujimori et al., 1991) |
PL | LND | exon 8 deleted | 1 exon deleted | new |
HD, Connersville | LND | c.532_609del | exon 8 deleted | (Davidson et al., 1989b) |
Case 5 | LND | c.609-16_657+58del | deletion of splice acceptor with cryptic splice acceptor | (Yamada et al., 1992) |
Evansville, RJK 894, BS, FE | LND | c.643_657+6del | 21 bp deleted in exon 9 | (Davidson et al., 1989b; Gibbs and Caskey, 1987; Gibbs et al., 1990) |
LN127, GQ | LND | c.643_657+7del | exon 9 excluded | new |
Japan3 | HRH | c.648_657+41del | 51 bp deleted in exon 9 | (Igarishi et al., 1989) |
2037023,2037024, Family 9 | LND | exon 9 deleted | 1 exon deleted | (Bertelli et al., 2004; de Gemmis et al., 2010) |
Las Palmas | LND | exon 9 deleted | 1 exon deleted | new |
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.