Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Annals of Neurology

Volumn 68, Issue 6, 2010, Pages 951-955

  Percy, Alan K ^a   Neul, Jeffrey L ^b   Glaze, Daniel G ^b   Motil, Kathleen J ^b   Skinner, Steven A ^c   Khwaja, Omar ^d   Lee, Hye Seung ^e   Lane, Jane B ^a   Barrish, Judy O ^b   Annese, Fran ^c   McNair, Lauren ^c   Graham, Joy ^c   Barnes, Katherine ^d  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; CLINICAL FEATURE; CONSENSUS; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETT SYNDROME; SYMPTOM;

FEMALE; HISTORY, 20TH CENTURY; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; NATURAL HISTORY; RETT SYNDROME;

EID: 78650914440     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22154     Document Type: Article

References (16)

1. Rett A, Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Medizin Wochschr 1966; 116: 723-726.
2. Hagberg B, Goutieres F, Hanefeld F, et al. Rett syndrome: criteria for inclusion and exclusion. Brain Dev 1985; 7: 372-373.
3. Group TRSDCW Diagnostic criteria for Rett syndrome. Ann Neurol 1988; 23: 425-428.
4. Amir R, Van den Veyver I, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188.
5. Hagberg B, Hanefeld F, Percy A, et al. 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. Eur J Paediatr Neurol 2002; 6: 293-297.
6. Hagberg BA, Skjeldal OH,. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994; 11: 5-11.
7. Neul J. Ann Neurol 2010; 68: 000-000.
8. Mnatzakanian GN, Lohi H, Munteanu I, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004; 36: 339-341.
9. Erlandson A, Samuelsson L, Hagberg B, et al. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003; 7: 329-332.
10. Laccone F, Junemann I, Whatley S, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 2004; 23: 234-244.
11. Meins M, Lehmann J, Gerresheim F, et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 2005; 42: e12.
12. Van Esch H, Bauters M, Ignatius J, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005; 77: 442-453.
13. Friez MJ, Jones JR, Clarkson K, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006; 118: e1687-e1695.
14. Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313-1321.
15. Percy AK, Lane JB, Childers J, et al. Rett syndrome: North American database. J Child Neurol 2007; 22: 1338-1341.
16. Bebbington A, Anderson A, Ravine D, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008; 70: 868-875.