Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale

Research in Developmental Disabilities

Volumn 35, Issue 11, 2014, Pages 2976-2986

  Fabio, Rosa Angela ^a   Colombo, Barbara ^b   Russo, Silvia ^b   Cogliati, Francesca ^b   Masciadri, Maura ^b   Foglia, Silvia ^b   Antonietti, Alessandro ^b   Tavian, Daniela ^b,c  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

Autonomy; Cognitive processes; Emotion; MECP2; Motor behaviour; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL EVALUATION; COHORT ANALYSIS; EXON; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MECP2 GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; RATING SCALE; RETT ASSESSMENT RATING SCALE; RETT SYNDROME; FEMALE; GENETICS; GENOTYPE; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION, MISSENSE; PHENOTYPE; RETT SYNDROME; YOUNG ADULT;

EID: 84924850801     PISSN: 08914222     EISSN: 18733379     Source Type: Journal    
DOI: 10.1016/j.ridd.2014.07.031     Document Type: Article

References (44)

1. American Psychiatric Association Diagnostic and statistical manual of mental disorders 2000, American Psychiatric Association, Washington, DC. DSM-IV-TR.
2. Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MeCP2, encoding methyl-CpG-binding protein 2. Nature Genetics 1999, 23:185-188.
3. Amir R.E., Van den Veyver I.B., Schultz R., Malicki D.M., Tran C.Q., Dahle E.J., et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Annals of Neurology 2000, 47:670-679.
4. Antonietti A., Castelli I., Fabio R.A., Marchetti A. Understanding emotions and mental states from faces and pictures in Rett syndrome. Emotional face comprehension. Neuropsychological perspectives 2008, 205-232. Nova Science Publishers, Hauppauge, NY. M. Balconi (Ed.).
5. Ariani F., Hayek G., Rondinella E., Artuso R., Mencarelli M.A., Spanhol-Rosseto A., et al. FOXG1 is responsible for the congenital variant of Rett syndrome. American Journal of Human Genetics 2008, 83:89-93.
6. Artuso R., Papa F.T., Grillo E., Mucciolo M., Yasui D.H., Dunaway K.W., et al. Investigation of modifier genes within copy number variations in Rett syndrome. Journal of Human Genetics 2011, 57:342-344.
7. Auranen M., Vanhala R., Vosman M., Levander M., Varilo T., Hietala M., et al. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 2001, 56:611-617.
8. Banerjee A., Romero-Lorenzo E., Sur M. MeCP2: Making sense of missense in Rett syndrome. Cell Research 2013, 23:1244-1246.
9. Bebbington A., Anderson A., Ravine D., Fyfe S., Pineda M., de Klerk N., et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008, 70:868-875.
10. Buschdorf J.P., Strätling W.H. A WW domain binding region in methyl-CpG-binding protein MeCP2: Impact on Rett syndrome. Journal of Molecular Medicine 2004, 82:135-143.
11. Castelli I., Antonietti A., Fabio R.A., Lucchini B., Marchetti A. Do Rett syndrome persons possess Theory of Mind? Some evidence from not-treated girls. Life Span and Disability 2013, 16:157-168.
12. Chae J.H., Hwang Y.S., Kim K.J. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. Journal of Child Neurology 2002, 17:33-36.
13. Colvin L., Leonard H., De Klerk N., Davis M., Weaving L., Williamson S., et al. Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics 2004, 41:25-30.
14. Conforti F.L., Mazzei R., Magariello A., Patitucci A., Gabriele A.L., Muglia M., et al. Mutation analysis of the MECP2 gene in patients with Rett syndrome. American Journal of Medical Genetics - Part A 2003, 117:184-187.
15. Erlandson A., Hagberg B. MECP2 abnormality phenotypes: Clinicopathologic area with broad variability. Journal of Child Neurology 2005, 20:727-732.
16. Fabio R.A., Antonietti A., Marchetti A., Castelli I. Attention and communication in Rett syndrome. Research in Autism Spectrum Disorders 2009, 3:329-335.
17. Fabio R.A., Giannatiempo S., Antonietti A., Budden S. The role of stereotypies in overselectivity process in Rett syndrome. Research in Developmental Disabilities 2009, 30:136-145.
18. Fabio R.A., Castelli I., Marchetti A., Antonietti A. Training communication abilities in Rett syndrome through reading and writing. Frontiers in Psychology 2013, 4(911):1-9. 10.3389/fpsyg.2013.00911.
19. Fan G., Hutnick L. Methyl-CpG binding proteins in the nervous system. Cell Research 2005, 15:255-261.
20. Gilliam J.E. Gilliam autism rating scale 1995, PRO-ED, Austin, TX.
21. Halbach N.S.J., Smeets E.E.J., van den Braak N., van Roozendaal K.E., Blok R.M., Schrander-Stumpel C.T., et al. Genotype-Phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. American Journal of Medical Genetics - Part A 2011, 158A:340-350.
22. Ham A.L., Kumar A., Deeter R., Schanen N.C. Does genotype predict phenotype in Rett syndrome?. Journal of Child Neurology 2005, 20:768-778.
23. Hoffbuhr K.C., Moses L.M., Jerdonek M.A., Naidu S., Hoffman E.P. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Mental Retardation and Developmental Disabilities Research Reviews 2002, 8:99-105.
24. Huppke P., Held M., Hanefeld F., Engel W., Laccone F. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002, 33:105-108.
25. Jones P.L., Veenstra G.J., Wade P.A., Vermaak D., Kass S.U., Landsberger N., et al. Methylated DNA and Mecp2 recruit histone deacetylase to repress transcription. Nature Genetics 1998, 19:187-191.
26. Knudsen G.P., Neilson T.C., Pedersen J., Kerr A., Schwartz M., Hulten M., et al. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. European Journal of Human Genetics 2006, 14:1189-1194.
27. Lyst M.J., Ekiert R., Ebert D.H., Merusi C., Nowak J., Selfridge J., et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nature Neuroscience 2013, 7:898-902.
28. Mellen M., Ayata P., Dewell S., Kriaucionis S., Heintz N. MeCP2 binds to 5hmc enriched within active genes and accessible chromatin in the nervous system. Cell 2012, 151:1417-1430.
29. Mnatzakanian G.N., Lohi H., Munteanu I., Alfred S.E., Yamada T., MacLeod P.J., et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature Genetics 2004, 36:339-341.
30. Monros E., Armstrong J., Aibar E., Poo P., Canos I., Pineda M. Rett syndrome in Spain: Mutation analysis and clinical correlations. Brain Development 2001, 23:S251-S253.
31. Myles B.S., Simpson R.L. Asperger syndrome: A guide for educators and parents 1998, PRO-ED, Austin, TX.
32. Nan X., Campoy F.J., Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997, 88:471-481.
33. Nan X., Ng H.H., Johnson C.A., Laherty C.D., Turner B.M., Eisenman R.N., et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 1998, 393:386-399.
34. Neul J.L., Fang P., Barrish J., Lane J., Caeg E.B., Smith E.O., et al. Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome. Neurology 2008, 70:1313-1321.
35. Nikitina T., Shi X., Ghosh R.P., Horowitz-Scherer R.A., Hansen J.C., Woodcock C.L. Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin. Molecular and Cellular Biology 2007, 27:864-877.
36. Percy A.K., Lane J.B., Childers J., Skinner S., Annese F., Barrish J., et al. Rett syndrome: North American database. Journal of Child Neurology 2007, 22:1338-1341.
37. Renieri A., Mari F., Mencarelli M.A., Scala E., Ariani F., Longo I., et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain and Development 2009, 31:208-216.
38. Scala E., Ariani F., Mari F., Caselli R., Pescussi C., Longo I., et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. Journal of Medical Genetics 2005, 42:103-107.
39. Schopler E., Reichler R., Rochen-Renner B. Childhood autism rating scale 1998, Western Psychological Services, Los Angeles, CA.
40. Smeets E.E.J., Pelc K., Dan B. Rett syndrome. Molecular Syndromology 2011, 2:113-127.
41. Van den Veyver I.B., Zoghbi H.Y. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Development 2001, 23:S147-S151.
42. Vignoli A., Fabio R.A., La Briola F., Giannatiempo S., Antonietti A., Maggiolini S., et al. Correlations between neurophysiological behavioral and cognitive function in Rett syndrome. Epilepsy and Behaviour 2010, 17:489-496.
43. Weaving L.S., Williamson S.L., Bennets B., Davis M., Ellaway C.J., Leonard H., et al. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics - Part A 2003, 118:103-114.
44. Weng S.M., Bailey M.E.S., Cobb S.R. Rett syndrome: From bed to bench. Pediatrics and Neonatology 2011, 52:309-316.