Other mutations

typenamephenotypemutationresultremarksource
Complex deletionLN210, GLNDc.-4_4delinsGCCframe shift in exon 1new
Complex deletionNSLNDc.119_129delinsGGACTAATsplicing error(Gucev et al., 2010)
Complex deletionBarcelonaHNDc.176_180delins ATAGATGTGAAA [1]frame shiftIn original report, it was c.261_265delins12. Updated information of this case was provided by Dra. Rosa Torres Jimenez.(Serrano et al., 2008)
Complex deletionCase 1-1HNDc.238_239delinsTT1 amino acid altered in exon 3, p.D80F(Jinnah et al., 2010)
Complex deletionGBHNDc.238_239delinsTT1 amino acid altered in exon 3, p.D80Fnew
Complex deletionIDLNDc.320_326delATGACCAinsCTTTTTTATframe shift in exon 4new
Complex deletion10/00, Family 10LNDc.329_332delinsTCT3 bp substituted for 4 bp in exon 4(Bertelli et al., 2004; de Gemmis et al., 2010)
Complex deletionLN9LNDc.398_402delinsG5 bp replaced with 1 bp in exon 5(Jinnah et al., 2000)
Complex deletionRJK 1210, LN40-4, GBLNDc.428_432delinsAGCAAA6 bp substituted for 5 bp in exon 6(Gibbs et al., 1989; Jinnah et al., 2006)
Complex deletionNSLNDc.456delinsTTframe shiftnew
Complex deletionDKNAc.52_54 delGACinsTAAp.Asp18*new
Complex deletionShinagawa, TSLNDc.538G>A and 77bp deletion of exon 8exon 8 excluded(Fujimori et al., 1994)
Complex deletionFamily 8LNDc.[475_476insAAGGT;479+27_479+35del9]exon 2 codes for 2 additional amino acid(Yamada et al., 2007)
Double mutationSalamanca, AA, JMAHNDc.[128T>G;130G>A]2 amino acids altered in exon 2(Jinnah et al., 2010; Puig et al., 2001; Sege-Peterson et al., 1992; Torres et al., 2000)
Double mutationJapan2HNDc.[536T>G;538G>A]2 amino acids altered in exon 8(Igarishi et al., 1989)
FemaleNSLND46,XX,t(X:2)(q26:p25);[XIC]translocation interrupting hprt gene with non-random inactivation of other(Rinat et al., 2005)
FemaleFLNLNDc.[(?_-30)_(*200_?)];[XIC]paternal X inactivated; maternal gene deleted(Ogasawara et al., 1989)
FemaleNSLNDc.[151C>T];[XIC]one X allele nonfunctional p.R51* stop mutation(Yamada et al., 1994)
FemaleNSHRHc.[215A>G];[XIC]c.215A>G leading to p.Y72C with non-random inactivation of other(Sebesta et al., 2008)
FemaleNSHRHc.[40G>A];[XIC]p.40G>A leading to p.E14K with non-random inactivation of other(Inokuchi et al., 2004)
FemaleSLNDc.[508T>C];[XIC]paternal X inactivated; maternal p.R170* stop mutation(De Gregorio et al., 2000b)
FemaleParis, LCLNDc.[558T>G];[XIC]maternal X inactivated; paternal p.Y153* stop mutation(Aral et al., 1996)
FemaleLN143LNDc.[580G>T];[XIC]p.D194Y; non-random inactivation of othernew
FemaleLN54, RMLNDc.[609+4A>G];[XIC]mosaic paternal X inactivation; maternal IVS8+4A>G(Jinnah et al., 2000; Jinnah et al., 2006)
FemaleNSLNDc.[609+4A>G];[XIC]IVS8+4A>G leading to skip exon 8; non-random inactivation of other(De Gregorio et al., 2005)
InsertionCTLNDc.288_289insAframe shife in exon 3(Jinnah et al., 2000)
InsertionRWHNDc.429_430insGCAexon 6 codes for an additional amino acid(Sege-Peterson et al., 1992)
InsertionNSLNDc.475_476insAAGGCTframe shift(Yamada et al., 2011a)
InsertionNSLNDc.556_557insTframe shife in exon 8(Willers et al., 1999)
RegulatorySample #2LNDnormalreduced mRNA(Nguyen et al., 2012)
RegulatoryNLLNDnormalno activitynew
RegulatoryNSHRHunknown regulatory elementreduced mRNA(Dawson et al., 2005)
RegulatoryP1, Case 24-19HNDunknown regulatory elementreduced mRNA(Garcia et al., 2008; Jinnah et al., 2010)
RegulatoryP2 (case 12-8), P3 (case 10-8), P4 (case 8-8)HNDunknown regulatory elementreduced mRNA(Garcia et al., 2008; Jinnah et al., 2010)
RegulatoryLN1HNDunknown regulatory elementreduced mRNA(Garcia et al., 2008)
TranslocationNSLNDtranslocation, intron 3Two kinds of unusual mRNAs are generated by a chimera gene(Yamada et al., 2007)