Mowat-Wilson syndrome detected by using high resolution microarray.
Gene
; 532(2): 307-9, 2013 Dec 15.
Article
em En
| MEDLINE
| ID: mdl-24029077
ABSTRACT
Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Psicomotores
/
Anormalidades Múltiplas
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Hibridização Genômica Comparativa
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Doença de Hirschsprung
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Deficiência Intelectual
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Microcefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Infant
Idioma:
En
Revista:
Gene
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Coréia do Sul