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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
  1. H Leonard1,
  2. L Colvin1,
  3. J Christodoulou2,3,
  4. T Schiavello1,
  5. S Williamson3,
  6. M Davis4,
  7. D Ravine5,
  8. S Fyfe6,
  9. N de Klerk1,
  10. T Matsuishi7,
  11. I Kondo8,
  12. A Clarke5,
  13. S Hackwell5,
  14. Y Yamashita7
  1. 1Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
  2. 2School of Paediatrics and Child Health, University of Sydney, New South Wales, Australia
  3. 3Western Sydney Genetics Program, Children’s Hospital at Westmead, New South Wales, Australia
  4. 4Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Australia
  5. 5Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
  6. 6Curtin University of Technology, Perth, Western Australia
  7. 7Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan
  8. 8Department of Hygiene, Ehime University School of Medicine, Onsen-gun, Ehime, Japan
  1. Correspondence to:
 Dr H Leonard, Telethon Institute for Child Health Research, PO Box 855, West Perth, WA 6872, Australia; 
 hleonard{at}cyllene.uwa.edu.au

https://doi.org/10.1136/jmg.40.5.e52

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    Rett syndrome is an X linked dominant neurodevelopmental disorder with an incidence of 1:10 000 females in Australia.1 It is characterised by apparently normal development between 6 and 18 months, followed by a period of regression with loss of purposeful hand use, deceleration of head growth, and onset of repetitive, stereotypic hand movements.2 Affected people also manifest gait ataxia and apraxia, autistic features, epileptic seizures, respiratory dysfunction, autonomic dysfunction, and decreased somatic growth.2,3 In recent years it has become apparent that the phenotypic range of this disorder is much wider than previously thought. Some patients may have a milder phenotype and retain the ability to walk or speak and others have an earlier onset and more severe features. People who have some but not all of the necessary criteria have been categorised as atypical4 or as one of six variant forms.5

    Rett syndrome has now been shown to be associated with mutations in the methyl-CpG-binding protein 2 (MeCP2).6 For many genetic disorders, the next stage in research after the identification of the gene involves describing the relation between genotype and phenotype, and the phenotypic diversity produced by different mutations in the same gene. Some research has found that people with missense MECP2 mutations may have a milder phenotype than those with truncating mutations.7,8 Weaving et al9 found that age at onset of hand stereotypies was later and speech and height (but not head growth) were slightly more normal in those with missense mutations whereas Nielsen et al10 found no difference in severity between these mutation types. In the study of Amir et al11 breathing abnormalities were found to be more common with truncating mutations and scoliosis more common with missense mutations. Hoffbuhr et al12 concluded that patients …

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