De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
Brain Dev
; 40(5): 406-409, 2018 May.
Article
em En
| MEDLINE
| ID: mdl-29519750
ABSTRACT
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652Gâ¯>â¯T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele. Late clinical loss of acquired purposeful hand movements and psychomotor deterioration may be a feature of Rett-related disorder, while distinctive facial features and multiple congenital anomalies are reminiscent of Cornelia de Lange syndrome.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
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Síndrome de Rett
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Histona Desacetilases
Tipo de estudo:
Etiology_studies
Limite:
Child
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Female
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Humans
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article