Distinct de novo deletions in a brother-sister pair with RTT: a case report.
Am J Med Genet B Neuropsychiatr Genet
; 156B(7): 859-63, 2011 Dec.
Article
em En
| MEDLINE
| ID: mdl-21812101
Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein2 (MeCP2), is a leading cause of mental retardation in females. Majority of cases are sporadic (99%) but some familial cases have also been observed. We describe a familial study with a brother-sister pair with symptoms of RTT and exhibiting distinct deletions in the MECP2. The non-shared de novo deletion in the two sibs provides important insights into the disease etiology, especially for male sibs showing varied phenotypes as compared to the classical ones seen in the females.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
/
Deleção de Sequência
/
Irmãos
Limite:
Adult
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article