Deletions

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.

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Deletions