[Discovery and functional analysis of a novel ISL1 variant associated with congenital heart defect].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 972-975, 2020 Sep 10.
Article
en Zh
| MEDLINE
| ID: mdl-32820510
ABSTRACT
OBJECTIVE:
To analyze variation of ISL1 gene and explore its functional characteristics in relation with congenital heart defect (CHD).METHODS:
Clinical data and peripheral blood samples of 194 CHD patients and 232 healthy controls were collected for the extraction of genomic DNA. The coding exons and flanking intronic regions of the ISL1 gene were sequenced. Expression plasmid for the wild-type ISL1 gene ISL1-pcDNA3.1 was constructed, and the corresponding variants were obtained by site-specific mutagenesis. The gene expression plasmid was transfected into CHO cells with liposome, and the functional characteristics of ISL1 variant were studied by double luciferase reporter gene analysis.RESULTS:
A novel variant of the ISL1 gene c.499C>T (p.Q167X) was detected in a patient with sporadic CHD. Functional study showed that the variant has lost its transcriptional activation function for the MEF2C promoter.CONCLUSION:
A novel variant of the ISL1 gene related to CHD has been identified. The defect of ISL1 gene may underlay the pathogenesis for a proportion of CHD.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
/
Proteínas con Homeodominio LIM
/
Cardiopatías Congénitas
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Animals
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China