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X-linked mental retardation

Friday 21 November 2003

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#