X-linked mental retardation
MRXs
Loci (Genetic forms)
| MRX1 | MRX2 | MRX3 | MRX4 | MRX5 | MRX6 | MRX7 | MRX8 | MRX9 | MRX10 |
| MRX11 | MRX12 | MRX13 | MRX14 | MRX15 | MRX16 | MRX17 | MRX18 | MRX19 | MRX20 |
| MRX21 | MRX22 | MRX23 | MRX24 | MRX25 | MRX26 | MRX27 | MRX28 | MRX29 | MRX30 |
| MRX31 | MRX32 | MRX33 | MRX34 | MRX35 | MRX36 | MRX37 | MRX38 | MRX39 | MRX40 |
| MRX41 | MRX42 | MRX43 | MRX44 | MRX45 | MRX46 | MRX47 | MRX48 | MRX49 | MRX50 |
| MRX51 | MRX52 | MRX53 | MRX54 | MRX55 | MRX56 | MRX57 | MRX58 | MRX59 | MRX60 |
| MRX61 | MRX62 | MRX63 | MRX64 | MRX65 | MRX66 | MRX67 | MRX68 | MRX69 | MRX70 |
| MRX81 | MRX82 | MRX83 | MRX84 | MRX85 | MRX86 | MRX87 | MRX88 | MRX89 | MRX90 |
| MRX91 | MRX92 | MRX93 | MRX94 | MRX95 | MRX96 | MRX97 | MRX98 | MRX99 | MRX100 |
Etiology
germline mutations in
- FMR1
- SLC6A8
- GDI1 for MRX41 and MRX48 (MIM.300104)
- CUL4B
| MRX21 | IL1RAPL1 | Xp22.1-p21.3 | MIM.300206 |
| MRX93 | BRWD3 | Xq13 | MIM.300553 |
| MRX89 | ZNF41 | Xp22.1-cen | MIM.314995 |
References
Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. PMID: 15630421
Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C. Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet. 2003 Jun;19(6):316-20. PMID: 12801724
Chelly J. Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Hum Mol Genet. 1999;8(10):1833-8. PMID: 10469834