Homozygosity for MECP2 gene in a girl with classical Rett syndrome

European Journal of Medical Genetics

Volumn 50, Issue 6, 2007, Pages 465-468

  Karall, Daniela ^a   Haberlandt, Edda ^a   Scholl Bürgi, Sabine ^a   Baumgartner, Sara ^a   Naudó, Montserrat ^b   Martorell, Loreto ^b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Homozygosity; Rett syndrome; Somatic mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; DISOMY; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MECP2 GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; RETT SYNDROME;

ADULT; CELLS, CULTURED; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMANS; KARYOTYPING; METHYL-CPG-BINDING PROTEIN 2; MOSAICISM; MUTATION; RETT SYNDROME;

EID: 36348999376     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.07.001     Document Type: Article

References (12)

1. Huppke P., Held M., Laccone F., and Hanefeld F. The spectrum of phenotypes in females with Rett syndrome. Brain Dev. 25 (2003) 346-351
2. Amir R.E., Van den Veyer I.B., Wan M., Tran C.Q., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23 (1999) 185-188
3. Wan M., Sung Jae Lee S., Zhang X., et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65 (1999) 1520-1529
4. Renieri A., Meloni I., Longo I., Ariani F., et al. Rett syndrome: the complex nature of a monogenic disease. J. Mol. Med. 81 (2003) 346-354
5. Amano K., Nomura Y., Segawa M., and Yamakawa K. Mutational analysis of the MECP2 in Japanese patients with Rett syndrome. J. Hum. Genet. 45 (2000) 231-236
6. Amano K., Nomura Y., Segawa M., and Yamakawa K. R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis. Brain Dev. 23 (2001) S152-S156
7. Li M., Pan H., Bao X.H., Zhang Y.Z., and Wu X.R. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J. Hum. Genet. 52 (2007) 38-47
8. Miltenberger-Miltenyi G., and Laccone F. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. Hum. Mutat. 22 (2003) 107-115
9. Bourdon V., Philippe C., Bienvenu T., Koenig B., Tardieu M., Chelly J., and Jonveaux P. Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. J. Med. Genet. 38 (2001) 867-870
10. Evans J.C., Archer H.L., Whatley S.E., and Clarke A. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin. Genet. 70 (2006) 336-338
11. Armstrong J., Poo P., Pineda M., Aibar E., et al. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann. Neurol. 5 (2001) 692
12. Topcu M., Akyerly C., Sayi A., et al. Somatic mosaicism for a MECP2 mutation associated with classical Rett Syndrome in a boy. Eur. J. Hum. Genet. 10 (2002) 77-81