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).