Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Mol Cytogenet
; 7(1): 74, 2014.
Article
em En
| MEDLINE
| ID: mdl-25349628
ABSTRACT
BACKGROUND:
Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.RESULTS:
We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.CONCLUSIONS:
This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Cytogenet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Alemanha