Table 1

Detection of mutations and variants in the MeCP2 gene in Rett syndrome patients

Mutation type Nationality Domain Nucleotide change Amino acid change Occurrence Previous detection
MissenseEuropeanMBD376C→GP101R1No
EuropeanMBD390C→TR106W1Amiret al 7
Wanet al 8
EuropeanMBD547C→TT158M2Amiret al 7
EuropeanTRD990C→TR306C1Wanet al 8
Protein truncationEuropean (2)576C→TR168X3Wanet al 8
Asian (1)
EuropeanTRD837C→TR255X3Amiret al 7
Wanet al 8
European (1)TRD882C→TR270X2No
European Asian (1)TRD954C→TR294X2No
VariantsEuropean1263G→AE397K1Wanet al 8
European971C→TT299T1
European22939ΔAIntron1
European23668G→CIntron1