Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
Am J Hum Genet
; 72(4): 1047-52, 2003 Apr.
Article
en En
| MEDLINE
| ID: mdl-12632326
ABSTRACT
Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also been described. Recently we identified and characterized the cell adhesion molecule CRELD1 (previously known as "cirrin") as a candidate gene for the AVSD2 locus mapping to chromosome 3p25. Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome. CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 3
/
Moléculas de Adhesión Celular
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Proteínas de la Matriz Extracelular
/
Defectos del Tabique Interatrial
/
Defectos del Tabique Interventricular
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Am J Hum Genet
Año:
2003
Tipo del documento:
Article
País de afiliación:
Estados Unidos