Table 1.

Cloned MRX Genes

Year MRX gene Function MRX mutation(s) Reference
1996 FMR2 nuclear protein; putative  transcription activatorFRAXE families;  deletion Gecz et al. (1996) Gu et al. (1996) Gedeon et al. (1995)
1998 GDI1 Rab GDP-dissociation inhibitorMRX41; MRX48; MRX R D'Adamo et al. (1998) Bienvenu et al. (1998)
1998 OPHN1 Rho-GTPase activating proteinMRX60; t(X;12) Billuart et al. (1998)
1998 PAK3 p21 activated kinaseMRX30 MRX47 Allen et al. (1998) Chelly (1999)
1999 RPS6KA3[i] growth factor regulated kinaseMRX19 Merienne et al. (1999)
1999 IL1RAPL interleukin receptor accessory   protein-likeMRX; deletions Carrie et al. (1999)
1999 TM4SF2 integrin associated proteinMRX Zemni et al. (2000)
1996 DXS6673E[ii] unknownt(X;13)van der Maarel et al. (2000)
1999 GRIA3[ii] glutamate receptor AMPA typet(X;12) Gecz et al. (2000)

[i] The only gene so far found to be involved in both syndromal (Coffin-Lowry syndrome) and nonspecific (MRX19) XLMRs.

[ii] Candidate MRX genes isolated from the X breakpoint of an X;autosome translocation and not yet found mutated in familial MRX.