Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation.
Genet Test
; 6(2): 129-31, 2002.
Article
em En
| MEDLINE
| ID: mdl-12215253
ABSTRACT
Among several genetic diseases that comprise mental retardation, Angelman syndrome (AS) has been extensively recognized and investigated. In the general population, the syndrome occurs in about 1 in 20,000 live births and its prevalence in severely mentally retarded individuals is 1.4%. These figures, however, may be an underestimate, because of the variable phenotype of AS. The main objective of this work was to investigate AS patients among a group of mentally retarded subjects, using the methylation pattern of the SNRPN gene, as determined by Southern blotting molecular analysis. The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. The patient's phenotype was classified as atypical, without outbursts of inappropriate laughter or a happy disposition; the patient would not have been diagnosed in the usual screens for AS, which only select patients who demonstrate the typical clinical findings characteristic of the disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 15
/
Síndrome de Angelman
/
Metilação de DNA
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Incidence_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article