Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects
| Autor: | Robert D. Steiner, Elizabeth Goldmuntz, Cynthia D. Morris, Cheryl L. Maslen, M. Jones, Susan W. Robinson, Mark D. Reller |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Heart Septal Defects
Ventricular Models Molecular Heterozygote Candidate gene Down syndrome Chromosomes Human Pair 21 Protein Conformation Molecular Sequence Data Population Locus (genetics) Biology Heart Septal Defects Atrial Mice 03 medical and health sciences Report Genetics medicine Animals Humans Missense mutation Genetics(clinical) Amino Acid Sequence education Genetics (clinical) 030304 developmental biology Extracellular Matrix Proteins 0303 health sciences education.field_of_study Epidermal Growth Factor Sequence Homology Amino Acid 030305 genetics & heredity Chromosome Mapping Exons medicine.disease Situs inversus Cattle Chromosomes Human Pair 3 Down Syndrome Trisomy Cell Adhesion Molecules Sequence Alignment Heterotaxy |
| Zdroj: | The American Journal of Human Genetics. 72:1047-1052 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/374319 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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