Table 1 Insertion/deletion variants in MECP2 in Japanese patients with RTT
From: Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
Family ID | Sex | Age (year:month) | Substitution | Exon/Intron deleted | DPR (1057–1209) | Deleted domain | Note | |
|---|---|---|---|---|---|---|---|---|
| Â | Â | Â | Nucleotide | Amino acid | Â | Â | Â | Â |
187 | F | 3 years 2 months | c.816_819del | p.(Gly273Valfs*) | Exon 4 | Â | TRD | This study |
269 | F | 3 years | c.[27–1707_c.378-206del; 1159_1160CC > AG; 1164_1188del] | p.[Pro387Ser; Pro388fs*] | Intron 2-Exon 4 | Deleted | CTD | |
289 | F | 2 years 11 months | c.378-375_c.1193del | Â | Intron 3-Exon 4 | Deleted | MBD, ID, TRD | |
451 | F | 3 years | c.27–7899_c.1137del |  | Intron 2-Exon 4 | Deleted | NTD, MBD, ID, TRD | |
470 | F | 27 years 1 month | c.1158_1258delinsCCGAGGGTGGCTCC | p.(Pro387_Pro419delinsArgGlyTrpLeu) | Exon 4 | Deleted | CTD | |
487 | F | 36 years 11 months | c.27-?_378 + ?del | ? | Intron 2-Exon 4 |  | ? | |
488 | F | 2 years 4 months | c.1168_*539del | p.(Pro390_Ser486delinsValArgSerHisProTrpTrpLeuLysSerGlyProThrProAlaProIleGlnAsnTrpGlnGlyArgPheThrGlyGlnGluSerGlyThrCysLeuLeuGlnLeuTrpHisGly) | Exon 4 | Deleted | CTD | |
500 | F | 2 years 1 month | c.27-?_378 + ?del | ? | Intron 2-Exon 4 |  | ? | |
559 | F | 2 years 1 month | c.1038_1195delinsAGCA | p.(Ser346Argfs*) | Exon 4 | Deleted | CTD | |
587 | F | 10 years 2 months | c.1367_*791delinsCGC | p.(Gly456_Ser486delinsAlaLeuGlyGlnGlyAlaGlyArgLeuAlaTrpGlyGlnAlaGlyGlnSerThrAlaGly) | Exon 4 | Deleted | CTD | |
288 | F | 2 years 6 months | c.806del | p.(Gly269Alafs*) | Exon 4 | Â | TRD | Wan M et al. (1999) |
376 | F | 4 years 2 months | c.47–57del | p.(Gly16Glufs*) | Exon 4 |  | NTD | Mnatzakanian GN et al. (2004) |
467 | F | 2 years 1 month | c.696del | p.(Lys233Argfs*) | Exon 4 | Â | TRD | Obata K et al. (2000) |
497 | F | 1 year 1 month | c.710dupG | p.(Gly238Trpfs*) | Exon 4 | Â | TRD | Hoffbuhr K et al. (2001) |
511 | F | 4 years | c.808del | p.(Arg270Glufs*) | Exon 4 | Â | TRD | Obata K et al. (2000) |
539 | F | 5 years 6 months | c.1157_1200del | p.(Leu386fs*) | Exon 4 | Deleted | CTD | RettBASE |
555 | F | 3 years 2 months | c.1154_1197del | p.(Pro385Hisfs*) | Exon 4 | Deleted | CTD | Bienvenu T et al. (2002) |
572 | F | 1 year 9 months | c.710del | p.(Gly237fs*) | Exon 4 | Â | TRD | Amir RE et al. (2000) |
