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Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome

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Abstract

Case report

We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic–clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient’s degree of social relatedness with her family members.

Discussion

An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.

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References

  1. Amano K, Nomura Y, Segawa M, Yamakawa K (2000) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet 45:231–236

    Article  CAS  PubMed  Google Scholar 

  2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185–188

    Article  CAS  PubMed  Google Scholar 

  3. Coy JF, Sedlacek Z, Bachner D, Delius H, Poustka A (1999) A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3″-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. Hum Mol Genet 8:1253–1262

    Article  CAS  PubMed  Google Scholar 

  4. Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H (2001) A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clin Dysmorphol 10:185–188

    Article  CAS  PubMed  Google Scholar 

  5. Goutieres F, Aicardi J (1986) Atypical forms of Rett syndrome. Am J Med Genet Suppl 1:183–194

    Article  CAS  PubMed  Google Scholar 

  6. Haas RH, Rice M (1985) Is Rett’s syndrome a disorder of carbohydrate metabolism? Hyperpyruvic acidemia and treatment by a ketogenic diet. Ann Neurol 18:418

    Google Scholar 

  7. Haas RH, Rice MA, Trauner DA, Merritt TA (1986) Therapeutic effects of a ketogenic diet in Rett syndrome. Am J Med Genet Suppl 24:225–246

    Article  Google Scholar 

  8. Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S (2001) Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain Dev 23:212–215

    Article  CAS  PubMed  Google Scholar 

  9. Liebhaber GM, Riemann E, Baumeister FA (2003) Ketogenic diet in Rett syndrome. J Child Neurol 18:74–75

    Article  PubMed  Google Scholar 

  10. Lugaresi E, Cirignotta F, Montagna P (1985) Abnormal breathing in the Rett syndrome. Brain Dev 7:329–333

    Article  CAS  PubMed  Google Scholar 

  11. Percy AK (2002) Clinical trials and treatment prospects. Ment Retard Dev Disabil Res Rev 8:106–111

    Article  PubMed  Google Scholar 

  12. Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser H (1993) Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol 34:227–234

    Article  CAS  PubMed  Google Scholar 

  13. Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet 126A:129–140

    Article  PubMed  Google Scholar 

  14. Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS (2004) MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet 128B:50–53

    Article  PubMed  Google Scholar 

  15. Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP (2003) Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet 122A:227–233

    Article  CAS  PubMed  Google Scholar 

  16. Swink TD, Vining EP, Freeman JM (1997) The ketogenic diet: 1997. Adv Pediatr 44:297–329

    CAS  PubMed  Google Scholar 

  17. Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65:1520–1529

    Article  CAS  PubMed Central  PubMed  Google Scholar 

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Acknowledgements

The authors thank Marshfield Clinic Research Foundation for its support through the assistance of Jennifer Hayes, Linda Weis, and Alice Stargardt in the preparation of this manuscript.

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Authors and Affiliations

  1. Department of Medical Genetic Services, Marshfield Clinic, 1000 North Oak Avenue 3C1, Marshfield, WI, USA

    P. F. Giampietro

  2. Medical Genetics, Mayo Clinic, Rochester, MN, USA

    D. B. Schowalter

  3. Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

    S. Merchant

  4. Department of Pediatric Neurology, Marshfield Clinic, 1000 North Oak Avenue 4F2, Marshfield, WI, USA

    L. R. Campbell & T. Swink

  5. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    B. B. Roa

Authors
  1. P. F. Giampietro
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  2. D. B. Schowalter
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  3. S. Merchant
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  4. L. R. Campbell
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  5. T. Swink
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  6. B. B. Roa
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Corresponding author

Correspondence to P. F. Giampietro.

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Giampietro, P.F., Schowalter, D.B., Merchant, S. et al. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. Childs Nerv Syst 22, 320–324 (2006). https://doi.org/10.1007/s00381-005-1155-z

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  • DOI: https://doi.org/10.1007/s00381-005-1155-z

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