Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 242-248

  Bebbington, A ^a   Percy, A ^b   Christodoulou, J ^c,d   Ravine, D ^e   Ho, G ^c   Jacoby, P ^a   Anderson, A ^a   Pineda, M ^f   Ben Zeev, B ^g   Bahi Buisson, N ^h   Smeets, E ^i,j   Leonard, Helen ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g SHEBA MEDICAL CENTER   (Israel)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SCOLIOSIS; SEIZURE; STEREOTYPY; SURVIVAL; WALKING; WEIGHT;

ADOLESCENT; ADULT; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; DATABASES, FACTUAL; GENE DELETION; HUMANS; INFANT; METHYL-CPG-BINDING PROTEIN 2; MIDDLE AGED; MULTIVARIATE ANALYSIS; PHENOTYPE; RETT SYNDROME; SEVERITY OF ILLNESS INDEX;

PINEDA;

EID: 77951561039     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.072553     Document Type: Article

References (22)

1. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Europ J Paediatr Neurol 2002;6:293-297 (Pubitemid 36267302)
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188 (Pubitemid 29455390)
3. Bebbington A, Leonard H, Ben Zeev B, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international dataset. Neurology 2008;70:868-875 (Pubitemid 351367508)
4. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008;70:1313-1321 (Pubitemid 351550354)
5. Renieri A. Diagnostic criteria for the zappella variant. Brain Dev 2009;31:208-216
6. Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2004;41:25-30. (Pubitemid 38128353)
7. Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P. Rett syndrome: North American database. J Child Neurol 2007;22:1338-1341 (Pubitemid 350214770)
8. Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Rett syndrome and long-term disorder profile. Am J Med Genet A 2009;149:199-205.
9. Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E, van Roozendaal K, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 2005;132:117-120 (Pubitemid 40093317)
10. Louise S, Fyfe S, Bebbington A, et al. InterRett, a model for international data collection in a rare genetic disorder. Res Autism Spectr Disord 2009;3:639-659
11. Laurvick C, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006;148:347-352
12. Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003;88:38-43. (Pubitemid 36098964)
13. Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H. p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet 2005;13:1235-1238
14. Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y. Patients with the R133C mutation: is their phenotype different from Rett syndrome patients with other mutations? J Med Genet 2003;40:e52.
15. Stata. Stata statistical software. 9th edn. College Station (TX, USA): StataCorp LP, 2005.
16. Donders AR, van der Heijden GJ, Stijnen T, Moons KG. Review: a gentle introduction to imputation of missing values. J Clin Epidemiol 2006;59:1087-1091 (Pubitemid 44374314)
17. Monros E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 2001;23(Suppl 1):S251-3.
18. Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet 2007;44:148-152 (Pubitemid 46318473)
19. Ben Zeev B, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecsler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009;72:1242-1247
20. Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001;23:208-211
21. Robertson L, Hall S, Jacoby P, Ellaway C, de Klerk N, Leonard H. The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database. Am J Med Genet B Neuropsychiatr Genet 2006;141:177-183 (Pubitemid 43214794)
22. Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet 2004;126A:129-140 (Pubitemid 38445468)