Multiple de novo mutations in the MECP2 gene

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 373-375

  Bunyan, David J ^a   Robinson, David O ^a,b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; POINT MUTATION; RETT SYNDROME; UNITED KINGDOM; X CHROMOSOME DOMINANT DISORDER;

AMINO ACID SUBSTITUTION; COHORT STUDIES; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GREAT BRITAIN; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; POINT MUTATION; RETT SYNDROME;

EID: 50649088191     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0012     Document Type: Article

References (13)

1. Amir RE, van den Veyver IB, Wan M, et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
2. Archer HL, Whatley SD, Evans JC, et al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. J Med Genet 43:451-456.
3. Brennan SO, Williamson D, Symmans WA, Carrell RW (1986) Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu - Pro and beta 141 Leu deleted. Hemoglobin 10:225-237.
4. Geerdink N, Rotteveel JJ, Lammens M, et al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 33:33-66.
5. Hagberg B, Aicardi J, Dias K, Ramos O (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome: report of 35 cases. Ann Neurol 14:471-479.
6. Hardwick SA, Reuter K, Williamson SL, et al. (2007) Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet 15:1218-1229.
7. Lee SSJ, Wan MM, Francke U (2001) Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 23:S138-S143.
8. Milunsky JM, Lebo RV, Ikuta T, et al. (2001) Mutation analysis in Rett syndrome. Genet Test 5:321-325.
9. Mongan NP, Jääskeläinen J, Green K, et al. (2002) Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. J Clin Endocrinol Metab 87:1057-1061.
10. Schouten JP, McElgunn CJ, Waaijer R, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependant probe amplification. Nucleic Acids Res 30:e57.
11. Tessitore A, Sinisi AA, Pasquali D, et al. (1999) A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET proto-oncogene. J Clin Endocrinol Metab 84:3522-3527.
12. Venancio M, Santos M, Pereira SA, et al. (2007) An explanation for another familial case of Rett syndrome: maternal germline mosaicism. Eur J Hum Genet 15:902-904.
13. Weaving LS, Williamson SL, Bennetts B, et al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 118A:103-114.