====== Spectrum of IBM2 Mutations ====== GNE Mutations Associated with IBM2/DMRV/HIBM/QSM, updated 8/03/2012. Table 1 is organized by reported patient(s). Table 2 is organized by the specific mutation. Mutations are reported using "E[Exon number]:" or "I[Intron number]" followed by "p.[Protein change]" or "c.[cDNA change]" followed by codon change in parentheses. ====== Table 1 (Patients Reported) ====== ^ Pts ^ Geographic Location ^ Family Origin ^ Allele 1 ^ Allele 2 ^ Reference ^ | 148 | Middle-East, USA, Europe | Iranian Jewish | E12: p.M712T (agt>acg) | Homozygous | [1,2] | | 2 | India | Asian Indian | E05: p.C303X (tgt>tga) | E12: p.V696M (gtg>atg) | [1] | | 4 | Bahamas | Bahaman | E04: p.D225N (gac>aac) | E04: p.R246Q (cgg>cag) | [1] | | 2 | GA, USA | American | E10: p.G576E (ggg>gag) | E11: p.A631T (gcg>acg) | [1] | | 3 | CA, USA | Iranian Non-Jewish | E12: p.M712T (agt>acg) | Homozygous | [2] | | 2 | TX, USA | Am-South American | E09: p.A524V (gcg>gtg) | E12: p.Y675H (tat>cat) | [2] | | 1 | CA, USA | American European | E03: p.G135V (ggt>gtt) | E04: p.R246W (cgg>tgg) | [2] | | 15 | Japan | Japanese | E10: p.V572L (gtg>ctg) | Homozygous | [3-5] | | 1 | Japan | Japanese | E11: p.A631V (gcg>gtg) | Homozygous | [3,5] | | 1 | Japan | Japanese | E10: p.V572L (gtg>ctg) | E05: p.C303V (tgt>gtt) | [3,12] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | E10: p.V572L (gtg>ctg) | [5] | | 2 | Ireland | Irish | E07: p.D378Y (gat>tat) | E11: p.A631V (gcg>gtg) | [5,6] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | Homozygous | [5] | | 1 | Japan | Japanese | I04: IVS4+4 (Skip E04) | E10: p.V572L (gtg>ctg) | [5] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | E06: p.V331A (gtt>gct) | [5] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | E03: p.H132Q (cacgtt) | E11: p.A630T (gctgtt) | E09: p.I472T (att>act) | [5] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | E05: p.R306Q (cga>caa) | [5] | | 1 | Japan | Japanese | E02: 10c.-ins>frameshift | E10: p.V572L (gtg>ctg) | [5] | | 1 | Japan | Japanese | E03: p.R177C (cgc>tgc) | E10: p.V572L (gtg>ctg) | [5] | | 5 | Middle East | Mid East Muslim | E12: p.M712T (agt>acg) | Homozygous | [6] | | 2 | USA | American | E10: p.I587T (att>act) | Homozygous | [6] | | 2 | Germany | German | E11: p.A631V (gcg>gtg) | E09: p.F528C (ttt>tgt) | [6] | | 2 | Italy | Italian | E02: p.P36L (cct>ctt) | E10: p.I557T (atc>acc) | [6] | | 1 | USA | American | E03: p.I200F (atc>ttc) | E07: p.D378Y (gat>tat) | [6] | | 2 | Italy | Italian | E03: p.M171V (atg>gtg) | E12: p.M712T (atg>acg) | [7] | | 2 | Italy | Italian | E03: p.R162C (cgc>tgc) | E03-E09 deletion | [8] | | 2 | Japan | Japanese | E08: p.A460V (gct>gtt) | E10: p.V572L (gtg>ctg) | [9] | | 2 | USA | American | E04: p.V216A (gtt>gct) | E11: p.A631V (gcg>gtg) | [10] | | 2 | USA | Asian Indian | E05: p.C303X (tgt>tga) | E11: p.A631T (gcg>acg) | [10] | | 2 | Japan | Japanese | E09: p.I472T (att>act) | E10: p.V572L (gtg>ctg) | [11] | | 9 | Japan | Japanese | E10: p.V572L (gtg>ctg) | Homozygous | [12] | | 1 | Japan | Japanese | E10: p.I557T (atc>acc) | E10: p.V572L (gtg>ctg) | [12] | | 1 | Japan | Japanese | E11: p.A631V (gcg>gtg) | E12: p.M712T (agt>acg) | [12] | | 1 | Japan | Japanese | E07: p.V421A (gtt>gct) | E10: p.V572L (gtg>ctg) | [12] | | 1 | Japan | Japanese | E11: p.A631V (gcg>gtg) | Homozygous | [12] | | 1 | Japan | Japanese | E02: p.C13S (tgt>tct) | E10: p.V572L (gtg>ctg) | [12] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | E10: p.V572L (gtg>ctg) | [12] | | 1 | Japan | Japanese | E03: p.D176V (gat>gtt) | P.P283S (cca>tca) | [12] | | 1 | Japan | Japanese | E03: p.R129Q (cga>caa) | E03: p.D176V (gat>gtt) | [12] | | 1 | Japan | Japanese | E07: p.V421A (gtt>gct) | E12: G708S (ggt>agt) | [12] | | 1 | Japan | Japanese | E07: p.R420X (cga>tga) | E10: p.V572L (gtg>ctg) | [12] | | 1 | Japan | Japanese | E02: p.C13S (tgt>tct) | E03: p.D176V (gat>gtt) | [12] | | 1 | Germany | Iran-NonJew | E07: p.V367I (gtt>att) | Homozygous | [13] | | 1 | USA | American | E04: p.V216A (gtt>gct) | E11:A631V (gcg>gtg) | [14] | | 1 | Asia | Asian Indian | E02: p.R11W (cgg>tgg) | E12: p.V696M (gtg>atg) | [14] | | 1 | Asia | Asian Indian | E05: p.C303Xstop (tgt>tga) | E12: p.V696M (gtg>atg | [14] | | 1 | Greece | Greek | E03: p.R202L (cgc>ctc) | E10:p.G559R (gga>aga) | [14] | | 2 | Italy | Italian | E09: p.N519S (aac>agc) | Homozygous | [15] | | 1 | Italy | Italian | E02: p.P27S (cct>tct) | Homozygous | [15] | | 2 | Italy | Italian | E10: p.A600T (gca>aca) | E03: p.G206fsX4 (ggt>delG, V209X) | [15] | | 1 | Italy | Italian | E04: p.R246Q (cgg>cag) | I06: Alternative Splicing Q355_C357del/G352fsX15 (c.1070+2dupT, insertion) | [15] | | 1 | Italy | Italian | E03: p.G206S (ggt>agt) | E07: p.I377fsX16 (1130delT] | [15] | | 5 | Tunisia | Tunisia | E12: p.M712T (atg>acg) | Homozygous | [16] | | 4 | Tunisia | Tunisia | E07: p.L379H (ctt>cat) | Homozygous | [16] | | 2 | Taiwan | Chinese | E04: p.I241S (atc>agc) | E09: p.W513X (tgg>tga) | [17,32] | | 4 | Korea | Korean | E02: p.V572L (gtg>ctg) | Homozygous | [18] | | 1 | Korea | Korean | E02: p.C13S (tgt>tct) | E10: p.V572L (gtg>ctg) | [18] | | 1 | Korea | Korean | E02: p.C13S (tgt>tct) | E02: p.M29T (atg>acg) | [18] | | 1 | Korea | Korean | E10: p.V572L (gtg>ctg) | E10: A591T (gcc>acc) | [18] | | 1 | Korea | Korean | E03: p.R129Q (cga>caa) | E10: p.V572L (gtg>ctg) | [18] | | 1 | USA | ?Italy | E06: p.L347del, p.H348N (ctgcac>aac) | E06: p.R335W (cgg>tgg) | [19] | | 1 | Asia | Asian | E10: p.V572L (gtg>ctg) | homozygous | [20] | | 2 | Taiwan | Taiwanese | E04: p.I241S (atc>agc) | E04: p.R246Q (cgg>cag) | [21,32] | | 1 | Thailand | Thai | E03: p.G89R (ggc>cgc) | E12: p.V696M (gtg>atg) | [22] | | 1 | Thailand | Thai | E09: p.A524V (gcg>gtg) | E12: p.V696M (gtg>atg) | [22] | | 1 | Thailand | Thai | E09: p.P511L (cct>ctt) | E12: p.V696M (gtg>atg) | [22] | | 1 | Thailand | Thai | E11: p.I656N (atc>aac) | E12: p.V696M (gtg>atg) | [22] | | 1 | Asia | Asian | E03: p.D176V (gat>gtt) | E09: p.P511H (cct>cat) | [23] | | 2 | France | | | | [24] | | 1 | France | | E05: p.R277C (cgt>tgt) | | [24] | | 1 | France | | E12: p.V679G (gtc>ggc) | | [24] | | 19 | Various | | New patients, previously reported mutations | | [25] | | 1 | USA | Am/Eur Caucasian | E02: p.R8X (cga>tga) | E11: p.A631V (gcg>gtg) | [25] | | 1 | Canada | Am/Eur Caucasian | E03: p.R71W (agg>tgg) | Homozygous | [25] | | 1 | USA | Am/Eur Caucasian | E03: p.I142T (att>act) | E04: p.R246Q (cgg>cag) | [25] | | 1 | USA | Am/Eur Caucasian | E03: p.W204X (tgg>tga) | E11: p.A631V (gcg>gtg) | [25] | | 1 | USA/India | Asian Indian | E05: p.I298T (att>act) | E12: p.V696M (gtg>atg) | [25] | | 1 | USA/Taiwan | Taiwanese | E08: p.Q436X (cag>tag) | E04: p.R246Q (cgg>cag) | [25] | | 1 | USA | Am/Eur Caucasian | E10: p.L556S (ttg>tcg) | E06: p.R335W (cgg>tgg) | [25] | | 1 | USA | Am/Eur Caucasian | E11: p.S615X (tca>tga) | E12: p.Y675H (tat>cat) | [25] | | 1 | USA | Am/Eur Caucasian | E02: p.E2G (gag>ggg) | Homozygous | [25] | | 2 | Netherland | Caucasian | E08: p.K432RfsX17 (aag>ag) | E12: p.V696M (gtg>atg) | [26] | | 1 | Italy | Egyptian Muslim | E12: p.M712T (agt>acg) | Homozygous | [27] | | 1 | Italy | Italian | E03: p.L179F (ctt>ttt) | E10: p.I587T (att>act) | [27] | | 2 | Germany | Italian | E04: p.R246W (cgg>tgg) | E05: p.A310P (gct>cct) | [28] | | 23 | India| Asian-Indian | Unknown | | [29] | | 2 | USA | Caucasian | E09: p.F528C (ttt>tgt) | E11: p.A631V (gcg>gtg) | [30] | | 1 | USA | Caucasian | E02: p.A26P (gcc>ccc) | E11: p.A631V (gcg>gtg) | [31] | | 1 | USA | Caucasian | E06: p.H333R (cat>cgt) | E07: p.Y361X (tat>tag) | [31] | | 3 | China | Chinese | E09: p.L508S (ttg>tcg) | E11: p.A631V (gcg>gtg) | [32] | | 2 | China | Chinese | E02: p.I51M (ata>atg) | E09: p.L508S (ttg>tcg) | [32] | | 1 | China | Chinese | E02: p.E35K (gaa>aaa) | E09: p.L508S (ttg>tcg) | [32] | | 1 | China | Chinese | E03: p.D176V (gat>gtt) | E09: p.L508S (ttg>tcg) | [32] | | 1 | China | Chinese | E10: p.I587T (att>act) | homozygous | [32] | | 1 | China | Chinese | E09: p.H509Y (cat>tat) | homozygous | [32,33] | | 1 | China | Chinese | E03: p.D176V (gat>gtt) | E10: p.V572L (gtg>ctg) | [32,33] | | 1 | Thailand | Asian | E05: p.L290X (ttg>tag) | E12: p.V696M (gtg>atg) | [34] | | 5 | USA | Unkown | I10: p.G545_D605del (c.1816+5G>A) | E12: p.V696M (gtg>atg) | [35] | | 5 | China | Chinese | reported p.D176V, p.I298T, p.A591T, P.A631V, p.V696M | novel E03: p.I106T (atc>acc) | [36] | | 3 | Japan | Japanese | E03: p.R101H (cgc>cac) | I03: c.617-4A>G | [37] | | 360 | Total Published Cases of IBM2/DMRV/QSM/HIBM ||||| ====== Table 2 (By GNE Mutation)====== ^ Exon Intron: GNE Mutation ^ No of Patient ^ Probable Allele Origin ^ Phenotype ^ Reference ^ | E02: p.E2G (gag>ggg) | 1 | Am/Eur| IBM2/DMRV | [25] | | E02: p.R8X (cga>tga) | 1 | Am/Eur| IBM2/DMRV | [25] | | E02: p.R11W (cgg>tgg) | 1 | India | IBM2/DMRV | [14] | | E02: Exon-02(10b insert), frame-shift | 1 | Japan | IBM2/DMRV | [5] | | E02: p.C13S (tgt>tct) | 4 | Japan | IBM2/DMRV | [12, 18] | | E02: p.P27S (cct>tct) | 1 | Italy | IBM2/DMRV | [15] | | E02: p.A26P(gcc>ccc) | 1 | USA | IBM2/DMRV | [31] | | E02: p.M29T (atg>acg) | 1 | Korea | IBM2/DMRV | [18] | | E02: p.E35K (gaa>aaa) | 1 | China | IBM2/DMRV | [32] | | E02: p.P36L (cct>ctt) | 1 | Italy | IBM2/DMRV | [6] | | E02: p.I51M (ata>atg) | 2 | China | IBM2/DMRV | [32] | | E02: p.R71W (agg>tgg) | 1 | Am/Eur| IBM2/DMRV | [25] | | I03: c.617-4A>G | 3 | Japan | IBM2/DMRV | [37] | | E03: p.G89R (ggc>cgc) | 1 | Thailand | IBM2/DMRV | [21] | | E03: p.I106T (atc>acc) | 1 | China | IBM2/DMRV | [36] | | E03: p.R101H (cgc>cac) | 3 | Japan| IBM2/DMRV | [37] | | E03: p.R129Q (cga>caa) | 2 | Japan, Korea | IBM2/DMRV | [12,18] | | E03: p.H132Q (cac>cag) | 1 | Japan | IBM2/DMRV | [5] | | E03: p.G135V (ggt>gtt) | 1 | Europe- | IBM2/DMRV | [2] | | E03: p.I142T (att>act) | 1 | Am/Eur | IBM2/DMRV | [25] | | E03: p.R162C (cgc>tgc) | 2 | Italy | IBM2/DMRV | [8] | | E03: p.M171V (atg>gtg) | 1 | Italy | IBM2/DMRV | [7] | | E03: p.D176V (gat>gtt) | 15 | Japan, China | IBM2/DMRV | [5,12,32,36] | | E03: p.R177C (cgc>tgc) | 1 | Japan | IBM2/DMRV | [5] | | E03: p.L179F (ctt>ttt) | 1 | Italy | IBM2/DMRV | [27] | | E03: p.I200F (atc>ttc) | 1 | America | IBM2/DMRV | [6] | | E03: p.R202L (cgc>ctc) | 1 | Greece | BM2/DMRV | [14] | | E03: p.W204X (tgg>tga) | 1 | Am/Eur | IBM2/DMRV | [25] | | E04: p.G206S (ggt>agt) | 1 | Italy | IBM2/DMRV | [15] | | E04: p.G206fsX4 (ggt>gt, V209X) | 2 | Italy | IBM2/DMRV | [15] | | E04: p.V216A (gtt>gct) | 2 | America | IBM2/DMRV | [10,14] | | E04: p.D225N (gac>aac) | 4 | Bahama | IBM2/DMRV | [1] | | E04: p.I241S (atc>agc) | 4 | Chinese Taiwan | IBM2/DMRV | [17,21,32] | | E04: p.R246W (cgg>tgg) | 5 | America | IBM2/DMRV | [2,25,28,32] | | E04: p.R246Q (cgg>cag) | 5 | Bahamas Taiwan | IBM2/DMRV | [1,15,21,25] | | I04: IVS4+4 (Skips E04) | 1 | Japan | IBM2/DMRV | [5] | | E05: p.R277C (cgt>tgt) | 1 | France | IBM2/DMRV | [24] | | E05: p.P283S (cca>tca) | 1 | Japan | IBM2/DMRV | [12] | | E05: p.L290X (ttg>tag) | 1 | Thailand | IBM2/DMRV | [34] | | E05: p.I298T(att>act) | 2 | India, China | IBM2/DMRV | [25,36] | | E05: p.C303Xstop (tgt>tga) | 4 | India | IBM2/DMRV | [1,10,14] | | E05: p.C303V (tgt>gtt) | 1 | Japan | IBM2/DMRV | [3] | | E05: p.R306Q (cga>caa) | 1 | Japan | IBM2/DMRV | [5] | | E05: p.A310P (gct>cct) | 2 | Italian | IBM2/DMRV | [28] | | E05: p.V315M (gtg>atg) | 1 | America | IBM2/DMRV | | | E06: p.V331A (gtt>gct) | 1 | Japan | IBM2/DMRV | [5] | | E06: p.H333R (cat>cgt) | 1 | USA | IBM2/DMRV | [31] | | E06: p.R335W (cgg>tgg) | 1 | USA | IBM2/DMRV | [19] | | E06: p.L347del, p.H348N (ctgcac>aac) | 1 | USA | IBM2/DMRV | [19] | | E06: p.R335W (cgg>tgg) | 1 | Am/Eur | IBM2/DMRV | [25] | | I06: Alternative Splicing Q355_C357del/G352fsX15 (c.1070+2dupT, insertion) | 1 | Italy | IBM2/DMRV | [15] | | E07: p.Y361X(tat>tag) | 1 | USA | IBM2/DMRV | [31] | | E07: p.V367I (gtt>att) | 1 | Iran | IBM2/DMRV | [13] | | E07: p.L319H (ctt>cat) | 4 | Tunisia | IBM2/DMRV | [16] | | E07: p.I377fsX16 (1130delT] | 1 | Italy | IBM2/DMRV | [15] | | E07: p.D378Y (gat>tat) | 4 | Japan | IBM2/DMRV | [5,6] | | E07: p.R420X (cga>tga) | 1 | Japan | IBM2/DMRV | [12] | | E07: p.V421A (gtt>gct) | 2 | Japan | IBM2/DMRV | [12] | | E08: p.Q436X (cag>tag) | 1 | Taiwan | IBM2/DMRV | [25] | | E08: p.K432RfsX17 (aag>ag) | 1 | Netherland/Euro | IBM2/DMRV | [26] | | E08: p.A460V (gct>gtt) | 2 | Japan | IBM2/DMRV | [9] | | E09: p.I472T (att>act) | 3 | Japan | IBM2/DMRV | [5,11] | | E09: p.L508S (ttg>tcg) | 7 | China | IBM2/DMRV | [32] | | E09: p.H509Y (cat>tat) | 1 | China | IBM2/DMRV | [32,33] | | E09: p.P511H (cct>cat) | 1 | Asia | IBM2/DMRV | [23] | | E09: p.P511L (cct>ctt) | 1 | Thailand | IBM2/DMRV | [22] | | E09: p.W513X (tgg>tga) | 2 | Chinese | IBM2/DMRV | [17,32] | | E09: p.N519S (aac>agc) | 2 | Italy | IBM2/DMRV | [15] | | E09: p.A524V (gcg>gtg) | 1,1 | South Am, Thailand | IBM2/DMRV | [2,21] | | E09: p.F528C (ttt>tgt) | 4 | Germany/USA | IBM2/DMRV | [6,30] | | E10: p.L556S (ttg>tcg) | 1 | Am/Eur | IBM2/DMRV | [25] | | E10: p.I557T (atc>acc) | 3 | Italy | IBM2/DMRV | [6,12] | | E10: p.G559R (gga>aga) | 1 | Greece | IBM2/DMRV | [14] | | E10: p.V572L (gtg>ctg) | 44 | Japan/Korea | IBM2/DMRV | [4,5,9,11,12,18,20,32] | | E10: p.G576E (ggg>gag) | 2 | America | IBM2/DMRV | [1] | | E10: p.I587T (att>act) | 4 | Italy/China | IBM2/DMRV | [6,27,32,36] | | E10: p.A591T (gcc>acc) | 1 | Korea/China | IBM2/DMRV | [18] | | E10: p.A600T (gca>aca) | 2 | Italy | IBM2/DMRV | [15] | | I10: p.G545_D605del (c.1816+5G>A) | 5 | Italy | IBM2/DMRV | [35] | | E11: p.A630T (gct>act) | 1 | Japan | IBM2/DMRV | [5] | | E11: p.S615X (tca>tga) | 1 | Am/Eur | IBM2/DMRV | [25] | | E11: p.A631T (gcg>acg) | 4 | Asia | IBM2/DMRV | [1,5,10] | | E11: p.A631V (gcg>gtg) | 14 | Japan/USA/China | IBM2/DMRV | [3,5,10,12,25,30,32,36] | | E11: p.I656N (atc>aac) | 1 | Thailand | IBM2/DMRV | [22] | | E12: p.Y675H (tat>cat) | 3 | South Am- | IBM2/DMRV | [2,25] | | E12: p.V679G (gtc>ggc) | 1 | French | IBM2/DMRV | [24] | | E12: p.V696M (gtg>atg) | 14 | India/Thai/China/Am/Eur | IBM2/DMRV | [1,14,22,25,26,34,35,36] | | E12: p.G708S (ggt>agt) | 1 | Japan | IBM2/DMRV | [12] | | E12: 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