Molecular diagnosis of Rett syndrome.
In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher. In most cases, missense and nonsense mutations affecting functionally important domains can be found. Additionally, a hot spot for small deletions has been defined, and several gross rearrangements have also been described. Among female individuals with Rett syndrome, the spectrum of clinical phenotypes is broad, but most fulfill the diagnostic criteria. In contrast, male individuals with mutations in the MECP2 gene are rare, and only a minority have clinical symptoms resembling Rett syndrome.
Huppke
Peter
P
Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany. phuppke@med.uni-goettingen.de
Gärtner
Jutta
J
D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2