Table 4 MECP2 and autistic spectrum disorders
ReferencePatients with ASD, nDe novo mutations, n (%)Mutations/deletionsClinical phenotype
Lam et al4821 (all F)1/21 (4.8)IVS2+2delTAAGAutism and MR. No regression, epilepsy or microcephaly
Vourc’h et al5159 (42M,17F)
Beyer et al52202 (154M,48F)
Carney et al4969 (all F)2/69 (2.9)1157del41, R294XAutism, MR and history of regression. No stereotypies, epilepsy or microcephaly
Zappella et al5019 (all F)2/19 (4.7)R133C, R453XPreserved speech variant of Rett syndrome
Shibayama et al5324‡0/24 (0)c1638 G→C,* c 6809 T→C,* P376R†
Lobo-Menendez et al5499 (58M,41F)
Li et al5565 (49M,16F)
Xi et al5631 (all M)0/31 (0)1 3′UTR variant*
Harvey et al57401 (266M,135F)
Coutinho et al58172 (141M,31F)0/172 (0)12 3′UTR variants.† 2 intronic variants,† G206A*
Total397F, 741M‡5/397 females (1.3), 0/741 males
  • ASD, autistic spectrum disorders; MR, mental retardation; UTR, untranslated region.

  • *Mutations found also in other non-affected family members or in controls.

  • †Not specified if occurring de novo; no pedigree information available.

  • ‡The study by Shibayama et al53 did not provide an M:F ratio and was excluded from the total.