Chromosomal abnormalities in Rett Syndrome and related disorders
This table contains published instances of large chromosomal abnormalities (mostly deletions) that are associated with a Rett-syndrome-like phenotype. The rationale is that new candidate genes for Rett syndrome are likely to be found in the regions affected. The inclusion of a gene in this table DOES NOT imply a role in disease (Rett syndrome or any other). As its role is to highlight novel areas of interest, abnormalities at known loci (i.e. Xq28 for MECP2 and Xp22 for CDKL5) have not been included in this table.
This table was last updated on the 7th July, 2014. Updates may only be made as required (i.e. if there is a relevant publication of interest).
| Reference | PMID | Karyotype | Description of chromosomal abnormality | Genes Affected | Likely Candidate(s) | Clinical phenotype | Gender | MECP2 Screened? |
|---|---|---|---|---|---|---|---|---|
Reference Papa et al, 2008 | PMID | Karyotype 46,XX,del(14)(q12q12) | Description of chromosomal abnormality deletion of 3.12 Mb in the long arm of chromosome 14 | Genes Affected FOXG1, PRKD1, SCFD1, COCH, STRN3 | Likely Candidate(s) FOXG1 | Clinical phenotype severe mental retardation with Rett-like features | Gender F | MECP2 Screened? Yes |
Reference Borg et al, 2005 | PMID | Karyotype 46,XX,t(1;7)(p13.3;q31.3) | Description of chromosomal abnormality balanced translocation between chromosomes 1 and 7 | Genes Affected NTNG1 (chr1) | Likely Candidate(s) NTNG1 | Clinical phenotype Rett - classical | Gender F | MECP2 Screened? Yes |
Reference Pescucci et al, 2003 | PMID | Karyotype 46,XX,del(2)(q34) | Description of chromosomal abnormality deletion of 9-11 Mb on the long arm of chromosome 2 | Genes Affected TNP1, IGFBP5, IGFBP2, RPL37A, SMARCAL1, XRCC5, LOC92691, HSA250303, FLJ10115, FN1, ATIC, ABCA12, BARD1, PF20, ZFN1A2, ERBB4, PRO0132, CPS1, LANCL1, ACADL, MYL1, FLJ23861, PRE14, MAP2, PTHR2, MGC40423,IDH1, CRYGA, CRYGB, CRYGC, CRYGD, FZD4, DKF2P434E2135, FLJ4042, LOC151194, CREB1, KLF7, KIAA0971, ADAM23, GPR1, EEF1B2, NDUSF1, FLJ20309, PRO2714,NRP2, MGC16131, ALS2CR19 | Likely Candidate(s) MAP2, ADAM23/MDC3, CREB1, KLF7 | Clinical phenotype autism and some RTT features | Gender F | MECP2 Screened? Yes |
Reference Wahlstrom et al, 1999 | PMID | Karyotype 46,XX,del(3)(pter;p25.1~25.2) | Description of chromosomal abnormality deletion of the distal part of the short arm of chromosome 3 | Genes Affected TBC | Likely Candidate(s) TBC | Clinical phenotype RTT - congenital | Gender F | MECP2 Screened? No |
Reference Gustavsson et al, 1999 | PMID | Karyotype 46,XX,del(18)(q21.1q22.3) | Description of chromosomal abnormality deletion of part of long arm of chromosome 18 | Genes Affected TBC | Likely Candidate(s) TBC | Clinical phenotype RTT - classical, with symptoms of monosomy 18q syndrome | Gender F | MECP2 Screened? No |
Reference Gordon et al, 1993 | PMID | Karyotype 46,XX/46,XX,del(18)(qter;q22.3) | Description of chromosomal abnormality mosaicism of deletion of part of the long arm of chromosome 18 | Genes Affected TBC | Likely Candidate(s) TBC | Clinical phenotype RTT - classical, with symptoms of monosomy 18q syndrome | Gender F | MECP2 Screened? No |