Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.
A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
Hagberg
Bengt
B
Department of Neuropediatrics, The Queen Silvia Children's Hospital, Göteborg University, Göteborg, Sweden. hagberg@pediat.gu.se
Erlandsson
Anna
A
Kyllerman
Mårten
M
Larsson
Gunillla
G
D000203:Activities of Daily Living / Q000145:classification; D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D018450:Disease Progression; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D006948:Hyperkinesis / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2; D009460:Neurologic Examination; 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