Rett syndrome in females with CTS hot spot deletions: a disorder profile.
From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures. Their adaptive behavior is surprisingly better preserved and in contrast with the typical decline in motor functioning. The delineation of disorder profiles by long-term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype.
Smeets
E
E
Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium. eric.smeets@gen.unimaas.nl
Terhal
P
P
Casaer
P
P
Peters
A
A
Midro
A
A
Schollen
E
E
van Roozendaal
K
K
Moog
U
U
Matthijs
G
G
Herbergs
J
J
Smeets
H
H
Curfs
L
L
Schrander-Stumpel
C
C
Fryns
J P
JP
D000328:Adult; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D008875:Middle Aged; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016138:Walking
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins