Guidelines for reporting clinical features in cases with MECP2 mutations.
An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.
Kerr
A M
AM
Department of Psychological Medicine, Gartnavel Royal Hospital, G12 0XH, Glasgow, UK.
Nomura
Y
Y
Armstrong
D
D
Anvret
M
M
Belichenko
P V
PV
Budden
S
S
Cass
H
H
Christodoulou
J
J
Clarke
A
A
Ellaway
C
C
d'Esposito
M
M
Francke
U
U
Hulten
M
M
Julu
P
P
Leonard
H
H
Naidu
S
S
Schanen
C
C
Webb
T
T
Engerstrom
I W
IW
Yamashita
Y
Y
Segawa
M
M
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins