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. 2012 Apr;2(3-5):113-127.
doi: 10.1159/000337637. Epub 2012 Apr 16.

Rett Syndrome

E E J Smeets  1 , K Pelc, B Dan
Affiliations

Rett Syndrome

E E J Smeets et al. Mol Syndromol. 2012 Apr.

Abstract

Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.

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Figures

Fig. 1
Fig. 1
Series of photographs of a 9-year-old girl with RTT diagnosed at 2 years, forceful breather at 6 years, very sociable at 8 years.
Fig. 2
Fig. 2
Series of photographs of an 11.5-year-old girl with RTT. She is a feeble breather: notice the absent gaze at 9 months, BIPAP ventilation during sleep at 3 years and alert behavior during daytime at 5 years.
See this image and copyright information in PMC

References

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