RettBASE: IRSF MECP2 Variation Database
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RettBASE: IRSF MECP2 Variation Database |
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| Reference | PMID | Karyotype | Description of chromosomal abnormality | Genes Affected | Likely Candidate(s) | Clinical phenotype | Gender | MECP2 Screened? |
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| 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 |
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MECP2 data is curated by:
Prof. John Christodoulou
and
Gladys Ho.
The MECP2 database and website are maintained by the
Western Sydney Genetics Program.
©2001 Western Sydney Genetics Program
Please use following format when citing RettBASE:RettBASE: IRSF MECP2 Variation Database. Western Sydney Genetics Program, Children's Hospital, Westmead, NSW Australia, 2002.
Or
Christodoulou J, Grimm A, Maher T and Bennetts B. 2003.
RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution.
Human Mutation 21:466-472 Abstract