Table 1. Mutations in the MECP2 Gene in 15 Patients with Classical Rett Syndrome

Exon Domain Nucleotide change * Amino acid change De novo/familial Cases No. Reference

3 - 141insA 47fs55X de novo 3 Our study

3 MBD 316C>T R106W de novo 1, 26 (Amir et al., 1999)

4 MBD 473C>T T158M de novo 7, 35 (Amir et al., 1999)

4 - 502C>T R168X de novo 12 (Wan et al., 1999)

4 TRD 754insC 252fs258X Familial, probably germ-line mosaicism

4 (Ben Zeev et al., 2002) 4 TRD 763C>T R255X de novo 34, 36 (Cheadle et al., 2000)

4 TRD 808C>T R270X de novo 5 (Huppke et al., 2000)

4 TRD 880C>T R294X de novo 17, 22 (De Bona et al., 2000)

4 - 1157del41 386del14 aa, stop de novo

Table 2. Non-pathogenic Polymorphisms Detected in the MECP2 Gene Among Patients Referred for

Molecular Testing

Exon Domain Nucleotide change * Amino acid change De novo/familial Case Reference

4 C-ter 1451G>C R484T familial - paternal 23 Our study

4 3`-UTR 1461+96insA - familial - maternal 23 Our study

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