Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.
Genet Couns
; 20(3): 255-60, 2009.
Article
em En
| MEDLINE
| ID: mdl-19852432
ABSTRACT
Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rubinstein-Taybi
/
Deleção Cromossômica
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Encefalite por Varicela Zoster
/
Proteína de Ligação a CREB
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Turquia