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.

Reference PMID Karyotype Description of chromosomal abnormality Genes Affected Likely Candidate(s) Clinical phenotype Gender MECP2 Screened?
Papa et al, 2008 18620755 46,XX,del(14)(q12q12) deletion of 3.12 Mb in the long arm of chromosome 14 FOXG1, PRKD1, SCFD1, COCH, STRN3 FOXG1 severe mental retardation with Rett-like features F Yes
Borg et al, 2005 15870826 46,XX,t(1;7)(p13.3;q31.3) balanced translocation between chromosomes 1 and 7 NTNG1 (chr1) NTNG1 Rett - classical F Yes
Pescucci et al, 2003 14986829 46,XX,del(2)(q34) deletion of 9-11 Mb on the long arm of chromosome 2 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 MAP2, ADAM23/MDC3, CREB1, KLF7 autism and some RTT features F Yes
Wahlstrom et al, 1999 10227408 46,XX,del(3)(pter;p25.1~25.2) deletion of the distal part of the short arm of chromosome 3 TBC TBC RTT - congenital F No
Gustavsson et al, 1999 10051171 46,XX,del(18)(q21.1q22.3) deletion of part of long arm of chromosome 18 TBC TBC RTT - classical, with symptoms of monosomy 18q syndrome F No
Gordon et al, 1993 8484399 46,XX/46,XX,del(18)(qter;q22.3) mosaicism of deletion of part of the long arm of chromosome 18 TBC TBC RTT - classical, with symptoms of monosomy 18q syndrome F No

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).