Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
J Med Genet
; 43(5): 451-6, 2006 May.
Article
em En
| MEDLINE
| ID: mdl-16183801
ABSTRACT
MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 was carried out using multiplex ligation dependent probe amplification or quantitative fluorescent PCR. Large deletions were identified in 37.8% (14/37) of classic and 7.5% (4/53) of atypical RTT patients. Most large deletions contained a breakpoint in the deletion prone region of exon 4. The clinical phenotype was ascertained in all 18 of the deleted cases and in four further cases with large deletions identified in Goettingen. Five patients with large deletions had additional congenital anomalies, which was significantly more than in RTT patients with other MECP2 mutations (2/193; p<0.0001). Quantitative analysis should be included in molecular diagnostic strategies in both classic and atypical RTT.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
/
Aberrações Cromossômicas
/
Proteína 2 de Ligação a Metil-CpG
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article