Deletions

typenamephenotypemutationsequence contextresultremarksource
Coding sequencesMLLND5'UTR deletedno proteinnew
Coding sequencesIllinois, RJK 951, RT, WELNVc.-12_1del13 bp deleted; alternate start(Davidson et al., 1994; Gibbs and Caskey, 1987; Gibbs et al., 1989)
Coding sequencesLN170, RSLNDc.105_108delGTTTframe shift in exon 2new
Coding sequencesNW, LN125LNDc.10delCframe shift exon 1(Jinnah et al., 2006)
Coding sequencesLN211, CNLNDc.124_127delATTAframe shift in exon 2new
Coding sequencesRJK 1939, LN7, BBLNDc.126delTframe shift in exon 2(Gibbs et al., 1990)
Coding sequencesJC;ACLNDc.131delAframe shift in exon 2new
Coding sequencesNSLNDc.156delT1 bp deleted in exon 3(Willers et al., 1999)
Coding sequencesRJK 2108, RKLNDc.156_195del40 bp deleted in exon 3(Gibbs et al., 1990)
Coding sequences69/01, Family 1LNDc.194_195delTC2 bp deleted in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesZuLNDc.196_197delTG2 bp deleted in exon 3(Gathof et al., 1998)
Coding sequencesFMLNDc.212delGframe shift in exon 3new
Coding sequences2 brothersLND/HNDc.213delCframe shift in exon 3Dr. Sharma updated the case on Jan 2013, in which the younger child has started self-multilation and the parents are very distressed.(Sharma et al., 2011)
Coding sequences108-03LNDc.213delCframe shift in exon 3(Corrigan et al., 2011)
Coding sequencesFamily 4LNDc.22_24delGTC1 amino acid coded by exon 1 lost(Yamada et al., 2007)
Coding sequencesLN28LNDc.248_249delAAframe shift in exon 3(Jinnah et al., 2000)
Coding sequencesNALNDc.269_270delATframe shift in exon 3(Zamora et al., 2007)
Coding sequencesLN165, EVLNDc.269_270delATframe shift in exon 3new
Coding sequencesBilbaoLNDc.275_298del16 bp deleted in exon 3new
Coding sequences123-00LNDc.276delCframe shift in exon 3(Corrigan et al., 2011)
Coding sequencesLN205, RCLNDc.288_289delTGframe shift in exon 3new
Coding sequencesNSLNDc.289_290delGTframe shift in exon 3(Willers et al., 1999)
Coding sequencesNSLNDc.289_290delGTframe shift in exon 3(Kim et al., 1997)
Coding sequencesFamily DLNDc.289_290delGTframe shift in exon 3(Kim et al., 1997)
Coding sequencesCheltenhamLNDc.289_290delGTframe shift in exon 3(Boyd et al., 1993; Davidson et al., 1991)
Coding sequencesRJK 1332, RCLNDc.289_290delGTframe shift in exon 3(Gibbs et al., 1989)
Coding sequencesLN209, JBLNDc.289_290delGTframe shift in exon 3new
Coding sequencesAdachi, NTLNDc.28_347del2 exons deleted(Fujimori et al., 1994),(Fujimori et al., 1991)
Coding sequencesFamily 56LNDc.292_298delGATTTTA7 bp deleted(O'Neill, 2004)
Coding sequencesNSLNDc.307_308delAA2 bp deleted in exon 3(Willers et al., 1999)
Coding sequencesRJK 1747, JMLNDc.317_318delGTframe shift in exon 3(Gibbs et al., 1990)
Coding sequencesNSLNDc.317_318delGTframe shift in exon 3(Yamada et al., 2004)
Coding sequencesNSLNDc.317_318delGTframe shift in exon 3(Yamada et al., 2011a)
Coding sequencesAndorraLNDc.319_384delexon 4 deleted(Puig et al., 2001; Torres et al., 2000)
Coding sequencesCCLNDc.322_389del67 bp deletion spanning exon 4-5(Jinnah et al., 2000)
Coding sequencesMurciaLNDc.333_334delAGframe shift in exon 4(Puig et al., 2001; Torres et al., 2000)
Coding sequencesNSLNDc.333_334delAGframe shift in exon 4(Yamada et al., 2008)
Coding sequences126-09LNDc.337delGframe shift in exon 4(Corrigan et al., 2011)
Coding sequences36-07LNDc.337delGframe shift in exon 4(Corrigan et al., 2011)
Coding sequencesLN164LNDc.337delGframe shift in exon 4new
Coding sequencesAsturiasLNDc.345delAframe shift in exon 4(Puig et al., 2001; Torres et al., 2000)
Coding sequencesRJK2019LNDc.392delTframe shift in exon 5(Gibbs et al., 1990)
Coding sequencesFamily VILNDc.395_401del7 bp deleted(Jurecka et al., 2008; Popowska et al., 1998)
Coding sequencesMiGHRHc.403_452delframe shift(Sege-Peterson et al., 1992)
Coding sequencesFamily 6LNDc.404delAframe shift(Yamada et al., 2007)
Coding sequencesNSLNDc.436_437delTT2 bp deleted in exon 6(Willers et al., 1999)
Coding sequencesLNF, LILNDc.460_470del11 bp deleted in exon 6(Jinnah et al., 2000)
Coding sequencesNSLNDc.50delAframe shift in exon 2(Yamada et al., 2007)
Coding sequencesNSLNDc.50delAframe shift in exon 2(Yamada et al., 2011a)
Coding sequencesCA;AALNDc.512delGframe shift in exon 7new
Coding sequencesRJK 1894, PKLNDc.514_516delGTT1 amino acid coded by exon 7 lost(Gibbs et al., 1990)
Coding sequencesZHLNDc.521_522delAT2 bp deleted(Jinnah et al., 2000)
Coding sequencesHD, ConnersvilleLNDc.532_609delexon 8 deleted(Davidson et al., 1989b)
Coding sequences66-06LNDc.534delTframe shift in exon 8(Corrigan et al., 2011)
Coding sequencesMichigan, DALNDc.535_537delGTTp.Val179del(Davidson et al., 1989b)
Coding sequencesRJK 855LNDc.536_538delTTGp.Val179del(Gibbs and Caskey, 1987; Gibbs et al., 1989)
Coding sequencesColombiaLNDc.53delAframe shift in exon 2new
Coding sequencesGLA 7291LNDc.549delTframe shift in exon 8(Boyd et al., 1993)
Coding sequencesNSLNDc.549delTframe shift in exon 8Previously reported incorrectly as c.548delG(Yamada et al., 2011a).(Yamada et al., 2011a; Yamada et al., 2011b)
Coding sequencesLN145, MPLNDc.577delCframe shift in exon 8new
Coding sequencesLDLNDc.585_586delTAframe shift in exon 8new
Coding sequencesNSLNDc.611delAframe shift in exon 9(Jinnah et al., 2006)
Coding sequencesBrierly HillNAc.619_620delGTframe shift in exon 9(Davidson et al., 1991)
Coding sequences60-10LNDc.622_624delTTAframe shift in exon 9(Corrigan et al., 2011)
Coding sequencesFamily ELNDc.631delAframe shift in exon 9(Kim et al., 1997)
Coding sequencesNSLNDc.631delAframe shift in exon 9(Yamada et al., 2007)
Coding sequencesFamily 7LNDc.635delGframe shift iin exon 9(Yamada et al., 2007)
Coding sequencesEvansville, RJK 894, BS, FELNDc.643_663del21 bp deleted in exon 9(Davidson et al., 1989b; Gibbs and Caskey, 1987; Gibbs et al., 1990)
Coding sequencesLN127, GQLNDc.643_664delexon 9 excludednew
Coding sequencesJapan3HRHc.648_698del51 bp deleted in exon 9(Igarishi et al., 1989)
Coding sequencesFamily 5LNDc.82_84delTATp.Tyr28del(Yamada et al., 2007)
Coding sequencesFE, 1423LNDc.82_84delTATp.Tyr28delPreviously reported incorrectly as 80-82delATT (Tarle et al., 1991).(Jinnah et al., 2000; Tarle et al., 1991)
Coding sequencesFMLNDc.82_84delTATp.Tyr28delnew
Coding sequencesNSLNDc.88delGframe shift in exon 2(Nguyen et al., 2011)
Coding sequencesNSLNDdel~15kb from promotor to intron1no mRNA(Yamada et al., 2011a)
Coding sequencesNSLNDdel~33kb from promotor to intron1no mRNA(Taniguchi et al., 2011; Yamada et al., 2011a)
Coding sequences8/01, 11/01, Family 2LNDexon 1 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesFamily XIIILNDexon 1 deletedN-terminal truncation(Jurecka et al., 2008; Popowska et al., 1998)
Coding sequencesLN11E, AE, HE, LN117LNDexon 1 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesSSLNDexon 1 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesM97/1LNDexon 1 deleted1 exon deleted(Tvrdik et al., 1998)
Coding sequencesNALNDexon 1 deleted1 exon deleted(Yamada et al., 2008)
Coding sequencesPatient CLNDexon 1 deleted1 exon deleted(Mizunuma et al., 2001)
Coding sequencesPatient DLNDexon 1 deleted1 exon deleted(Mizunuma et al., 2001)
Coding sequencesLN130, MLLNDexon 1 deleted1 exon deletednew
Coding sequencesLN139D, H2339, JM, JHG, LN160LNDexon 1 deleted1 exon deletednew
Coding sequencesLN161, OLHLNDexon 1 deleted1 exon deletednew
Coding sequencesLN201, JLLNDexon 1 deleted1 exon deletednew
Coding sequencesLN215, WMLNDexon 1 deleted1 exon deletednew
Coding sequencesLeganesLNDexon 1 deleted1 exon deletednew
Coding sequencesMGLNDexon 2 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesNANAexon 2 deleted1 exon deleted(Pela et al., 2008)
Coding sequencesG 323LNDexon 3 deleted1 exon deleted(Wehnert and Herrman, 1990)
Coding sequences17,571,758LNDexon 4 deleted1 exon deleted(Tarle et al., 1991)
Coding sequencesRTLNDexon 4 deleted1 exon deleted(Sege-Peterson et al., 1992)
Coding sequencesBamber BridgeLNDexon 4 deleted1 exon deleted(Davidson et al., 1991)
Coding sequences24/1, Family 8LNDexon 4 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesCoLNDexon 4 deleted1 exon deleted(Gathof et al., 1998)
Coding sequencesLN52, FILNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesLN40-1, PBLNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesRTLNDexon 4 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesDALNDexon 4 deleted1 exon deletednew
Coding sequencesRSLNDexon 5 deleted1 exon deleted(Jinnah et al., 2000)
Coding sequencesNSLNDexon 5 deleted1 exon deleted(Yamada et al., 2011a; Yamada et al., 2011b)
Coding sequencesDLLNDexon 7 deleted1 exon deleted(Sege-Peterson et al., 1992)
Coding sequencesCoulsdonLNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
Coding sequencesDAG25HNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
Coding sequencesDAG33LNDexon 7 deleted1 exon deleted(Davidson et al., 1991)
Coding sequencesVWLNDexon 7 deleted1 exon deletednew
Coding sequencesTS (WR170)LNDexon 8 deleted1 exon deleted(Fujimori et al., 1991)
Coding sequencesPLLNDexon 8 deleted1 exon deletednew
Coding sequences2037023,2037024, Family 9LNDexon 9 deleted1 exon deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesLas PalmasLNDexon 9 deleted1 exon deletednew
Coding sequences12/00, Family 3LNDexons 1-3 deleted3 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesG 137NAexons 1-3 deleted3 exons deleted(Wehnert and Herrman, 1990)
Coding sequencesLN12LNDexons 1-3 deleted3 exons deleted(Jinnah et al., 2000)
Coding sequences110/01, Family 4LNDexons 1-9 deletedwhole gene deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesFamily 5LNDexons 1-9 deletedwhole gene deleted(de Gemmis et al., 2010)
Coding sequencesRJK 853, McALNDexons 1-9 deletedwhole gene deleted(Gibbs et al., 1990; Yang et al., 1984)
Coding sequencesRR, JRLNDexons 1-9 deletedwhole gene deleted(Jinnah et al., 2000)
Coding sequencesNSLNDexons 1-9 deletedwhole gene deleted(Yamada et al., 2011a)
Coding sequencesLN152, RRLNDexons 1-9 deletedwhole gene deletednew
Coding sequencesANLNDexons 2-3 deleted2 exons deleted(Jinnah et al., 2000)
Coding sequencesG 316NAexons 2-3 deleted2 exons deleted(Wehnert and Herrman, 1990)
Coding sequencesII-2LNDexons 2-3 deleted2 exons deleted(Renwick et al., 1995)
Coding sequencesNSLNDexons 2-3 deleted2 exons deleted(Singh et al., 1989)
Coding sequencesLN139E, H4672, HLNDexons 2-3 deleted2 exons deletednew
Coding sequencesLN137, RCLNDexons 2-4 deleted3 exons deletednew
Coding sequences46/00, Family 7LNDexons 2-9 deleted8 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesCa, 6/00, Family 6LNDexons 2-9 deleted8 exons deleted(Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1998)
Coding sequencesP-JGLNDexons 3-9 deleted7 exons deleted(Burgemeister et al., 1994)
Coding sequencesLN1-1, PBLNDexons 4-5 deleted2 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
Coding sequencesNSNAexons 4-5 deletedexclusion exon 4-5(de Gemmis et al., 2010)
Coding sequencesNSLNDexons 4-6 deleted3 exons deleted(Singh et al., 1989)
Coding sequencesJS, RJK 849LNDexons 4-6 deleted6 exons deleted(Yang et al., 1984)
Coding sequencesLN213, DRLNDexons 4-6 deleted3 exons deletednew
Coding sequencesLN62-1, JOLNDexons 4-8 deleted5 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
Coding sequencesGBLNDexons 4-8 deletedno proteinnew
Coding sequencesMLLNDexons 4-9 deletedno proteinnew
Coding sequencesLN10LNDexons 4-9 deleted6 exons deleted(Jinnah et al., 2000)
Coding sequencesFamily 72LNDexons 4-9 deleted6 exons deleted(O'Neill, 2004)
Coding sequencesFamily 9LNDexons 5-6 deleted2 exons deleted(Yamada et al., 2007; Yamada et al., 2011a)
Coding sequencesLN-K, MD-HLNDexons 5-6 deleted2 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
Coding sequencesRJK 984LNDexons 6-9 deleted4 exons deleted(Fuscoe and Nelsen, 1994; Jankovic et al., 1988)
Coding sequencesGM 3467LNDexons 7-9 deleted3 exons deleted(Yang et al., 1984)
Coding sequencesNSLNDexons 7-9 deleted3 exons deleted(Singh et al., 1989)
Coding sequencesLN144, CSLNDexons 7-9 deleted3 exon deletednew
Coding sequencesC96/12HNDintrons 1-2 deletedpartial exon 2 deletion(Tvrdik et al., 1998)
Splice errorNSLNDc.134+1delGsplice error; exon 2 excluded(Willers et al., 1999)
Splice errorCase 2 or 4LNDc.319_322del AATGsplice error; exon 4 excluded(Yamada et al., 1991; Yamada et al., 1992)
Splice errorLN124, ESLNDc.402+1_402+4delGTAAsplice error, frame shift in exon 5new
Splice errorLN218, DDLNDc.402+5delGsplice error, frame shift in exon 5new
Splice errorHenryville, LN-DLNDc.485+1delGsplice error; 66 bp of I5 included, multiple mRNAs(Hunter et al., 1996)
Splice errorNSLNDc.609+1_2delGTsplice error, exon 7 excluded(Yamada et al., 2004)
Splice errorNSNAc.609+1_609+4delGTAAsplice errorIt 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.(Roche et al., 2009)
Splice errorLN146, KBLNDc.609+5_609+8del GATTsplice error, frame shift in exon 8new
Splice errorCase 5LNDc.609-16_657+58deldeletion of splice acceptor with cryptic splice acceptor(Yamada et al., 1992)